Linked Data
dbSNP Id:
rs2239219
gnomAD v2:
14-72852820-A-G
gnomAD v3:
14-72386112-A-G
gnomAD v4:
14-72386112-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.72386112A>G , CM000676.2:g.72386112A>G | GRCh38 |
| NC_000014.8:g.72852820A>G , CM000676.1:g.72852820A>G | GRCh37 |
| NC_000014.7:g.71922573A>G | NCBI36 |
| NG_029236.1:g.459004A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553525.6:c.184+33918A>G MANE Select | ENSP00000451030.1:n.184+33918A>G | |
| ENST00000343854.10:c.79+33918A>G | ENSP00000341199.7:n.79+33918A>G | |
| ENST00000355512.10:c.184+33918A>G | ENSP00000347699.6:n.184+33918A>G | |
| ENST00000402788.6:c.79+33918A>G | ENSP00000383953.3:n.79+33918A>G | |
| ENST00000404301.6:c.184+33918A>G | ENSP00000385243.2:n.184+33918A>G | |
| ENST00000406236.8:c.184+33918A>G | ENSP00000384218.4:n.184+33918A>G | |
| ENST00000407322.8:c.184+33918A>G | ENSP00000384612.4:n.184+33918A>G | |
| ENST00000553525.5:c.184+33918A>G | ENSP00000451030.1:n.184+33918A>G | |
| ENST00000553530.5:c.184+33918A>G | ENSP00000452331.1:n.184+33918A>G | |
| ENST00000554474.5:c.184+33918A>G | ENSP00000450858.1:n.184+33918A>G | |
| ENST00000555571.5:c.184+33918A>G | ENSP00000450936.1:n.184+33918A>G | |
| ENST00000556437.5:c.184+33918A>G | ENSP00000451855.1:n.184+33918A>G | |
| ENST00000622468.4:c.79+33918A>G | ENSP00000478186.1:n.79+33918A>G | |
| NM_001204416.1:c.184+33918A>G | NP_001191345.1:n.184+33918A>G | |
| NM_001204417.1:c.184+33918A>G | NP_001191346.1:n.184+33918A>G | |
| NM_001204418.1:c.184+33918A>G | NP_001191347.1:n.184+33918A>G | |
| NM_001204419.1:c.184+33918A>G | NP_001191348.1:n.184+33918A>G | |
| NM_001204420.1:c.184+33918A>G | NP_001191349.1:n.184+33918A>G | |
| NM_001204421.1:c.184+33918A>G | NP_001191350.1:n.184+33918A>G | |
| NM_001204422.1:c.184+33918A>G | NP_001191351.1:n.184+33918A>G | |
| NM_001204423.1:c.79+33918A>G | NP_001191352.1:n.79+33918A>G | |
| NM_001204424.1:c.184+33918A>G | NP_001191353.1:n.184+33918A>G | |
| NM_004296.5:c.184+33918A>G | NP_004287.3:n.184+33918A>G | |
| XM_005268235.3:c.184+33918A>G | XP_005268292.1:n.184+33918A>G | |
| XM_005268236.1:c.184+33918A>G | XP_005268293.1:n.184+33918A>G | |
| XM_011537389.1:c.184+33918A>G | XP_011535691.1:n.184+33918A>G | |
| XM_011537391.1:c.184+33918A>G | XP_011535693.1:n.184+33918A>G | |
| XM_011537408.1:c.184+33918A>G | XP_011535710.1:n.184+33918A>G | |
| XR_943565.1:n.369+33918A>G | ||
| XR_944017.1:n.434-3411T>C | ||
| XR_944018.1:n.1628-3411T>C | ||
| XR_944019.1:n.808-3411T>C | ||
| NM_001204416.2:c.184+33918A>G | NP_001191345.1:n.184+33918A>G | |
| NM_001204417.2:c.184+33918A>G | NP_001191346.1:n.184+33918A>G | |
| NM_001204418.2:c.184+33918A>G | NP_001191347.1:n.184+33918A>G | |
| NM_001204419.2:c.184+33918A>G | NP_001191348.1:n.184+33918A>G | |
| NM_001204420.2:c.184+33918A>G | NP_001191349.1:n.184+33918A>G | |
| NM_001204421.2:c.184+33918A>G | NP_001191350.1:n.184+33918A>G | |
| NM_001204422.2:c.184+33918A>G | NP_001191351.1:n.184+33918A>G | |
| NM_004296.6:c.184+33918A>G | NP_004287.3:n.184+33918A>G | |
| NR_135235.1:n.469+33918A>G | ||
| XM_017021819.1:c.184+33918A>G | XP_016877308.1:n.184+33918A>G | |
| XM_017021820.2:c.184+33918A>G | XP_016877309.1:n.184+33918A>G | |
| XM_017021822.2:c.184+33918A>G | XP_016877311.1:n.184+33918A>G | |
| XM_017021824.1:c.184+33918A>G | XP_016877313.1:n.184+33918A>G | |
| XM_017021825.2:c.184+33918A>G | XP_016877314.1:n.184+33918A>G | |
| XM_017021826.2:c.184+33918A>G | XP_016877315.1:n.184+33918A>G | |
| XM_017021827.2:c.184+33918A>G | XP_016877316.1:n.184+33918A>G | |
| XM_017021828.2:c.184+33918A>G | XP_016877317.1:n.184+33918A>G | |
| XM_017021829.1:c.184+33918A>G | XP_016877318.1:n.184+33918A>G | |
| XM_017021830.2:c.184+33918A>G | XP_016877319.1:n.184+33918A>G | |
| XM_017021831.2:c.184+33918A>G | XP_016877320.1:n.184+33918A>G | |
| XM_017021832.2:c.184+33918A>G | XP_016877321.1:n.184+33918A>G | |
| XM_017021833.2:c.184+33918A>G | XP_016877322.1:n.184+33918A>G | |
| XM_024449759.1:c.184+33918A>G | XP_024305527.1:n.184+33918A>G | |
| XM_024449760.1:c.184+33918A>G | XP_024305528.1:n.184+33918A>G | |
| XM_024449761.1:c.184+33918A>G | XP_024305529.1:n.184+33918A>G | |
| XM_024449762.1:c.184+33918A>G | XP_024305530.1:n.184+33918A>G | |
| XM_024449765.1:c.184+33918A>G | XP_024305533.1:n.184+33918A>G | |
| XM_024449766.1:c.184+33918A>G | XP_024305534.1:n.184+33918A>G | |
| XM_024449767.1:c.184+33918A>G | XP_024305535.1:n.184+33918A>G | |
| XM_024449768.1:c.184+33918A>G | XP_024305536.1:n.184+33918A>G | |
| XM_024449769.1:c.184+33918A>G | XP_024305537.1:n.184+33918A>G | |
| XM_024449770.1:c.184+33918A>G | XP_024305538.1:n.184+33918A>G | |
| XM_024449771.1:c.184+33918A>G | XP_024305539.1:n.184+33918A>G | |
| XM_024449772.1:c.184+33918A>G | XP_024305540.1:n.184+33918A>G | |
| XM_024449773.1:c.184+33918A>G | XP_024305541.1:n.184+33918A>G | |
| XM_024449774.1:c.184+33918A>G | XP_024305542.1:n.184+33918A>G | |
| XM_024449775.1:c.184+33918A>G | XP_024305543.1:n.184+33918A>G | |
| XM_024449776.1:c.184+33918A>G | XP_024305544.1:n.184+33918A>G | |
| XM_024449777.1:c.184+33918A>G | XP_024305545.1:n.184+33918A>G | |
| XM_024449778.1:c.184+33918A>G | XP_024305546.1:n.184+33918A>G | |
| XR_001750613.2:n.707+33918A>G | ||
| XR_001750997.1:n.605-3411T>C | ||
| XR_002957573.1:n.707+33918A>G | ||
| XR_944018.2:n.1012-3411T>C | ||
| XR_944019.2:n.808-3411T>C | ||
| NM_001204424.2:c.184+33918A>G MANE Select | NP_001191353.1:n.184+33918A>G | |
| NM_001204416.3:c.184+33918A>G | NP_001191345.1:n.184+33918A>G | |
| NM_001204417.3:c.184+33918A>G | NP_001191346.1:n.184+33918A>G | |
| NM_001204418.3:c.184+33918A>G | NP_001191347.1:n.184+33918A>G | |
| NM_001204419.3:c.184+33918A>G | NP_001191348.1:n.184+33918A>G | |
| NM_001204420.3:c.184+33918A>G | NP_001191349.1:n.184+33918A>G | |
| NM_001204421.3:c.184+33918A>G | NP_001191350.1:n.184+33918A>G | |
| NM_001204422.3:c.184+33918A>G | NP_001191351.1:n.184+33918A>G | |
| NM_001204423.2:c.79+33918A>G | NP_001191352.1:n.79+33918A>G | |
| NM_001370270.1:c.184+33918A>G | NP_001357199.1:n.184+33918A>G | |
| NM_001370271.1:c.184+33918A>G | NP_001357200.1:n.184+33918A>G | |
| NM_001370272.1:c.184+33918A>G | NP_001357201.1:n.184+33918A>G | |
| NM_001370273.1:c.184+33918A>G | NP_001357202.1:n.184+33918A>G | |
| NM_001370274.1:c.184+33918A>G | NP_001357203.1:n.184+33918A>G | |
| NM_001370275.1:c.184+33918A>G | NP_001357204.1:n.184+33918A>G | |
| NM_001370276.1:c.184+33918A>G | NP_001357205.1:n.184+33918A>G | |
| NM_001370277.1:c.184+33918A>G | NP_001357206.1:n.184+33918A>G | |
| NM_001370278.1:c.184+33918A>G | NP_001357207.1:n.184+33918A>G | |
| NM_001370279.1:c.184+33918A>G | NP_001357208.1:n.184+33918A>G | |
| NM_001370280.1:c.184+33918A>G | NP_001357209.1:n.184+33918A>G | |
| NM_001370281.1:c.184+33918A>G | NP_001357210.1:n.184+33918A>G | |
| NM_001370282.1:c.184+33918A>G | NP_001357211.1:n.184+33918A>G | |
| NM_001370283.1:c.184+33918A>G | NP_001357212.1:n.184+33918A>G | |
| NM_001370284.1:c.184+33918A>G | NP_001357213.1:n.184+33918A>G | |
| NM_001370286.1:c.184+33918A>G | NP_001357215.1:n.184+33918A>G | |
| NM_001370287.1:c.184+33918A>G | NP_001357216.1:n.184+33918A>G | |
| NM_001370288.1:c.184+33918A>G | NP_001357217.1:n.184+33918A>G | |
| NM_001370289.1:c.184+33918A>G | NP_001357218.1:n.184+33918A>G | |
| NM_001370290.1:c.184+33918A>G | NP_001357219.1:n.184+33918A>G | |
| NM_001370291.1:c.184+33918A>G | NP_001357220.1:n.184+33918A>G | |
| NM_001370292.1:c.184+33918A>G | NP_001357221.1:n.184+33918A>G | |
| NM_001370293.1:c.184+33918A>G | NP_001357222.1:n.184+33918A>G | |
| NM_001370294.1:c.184+33918A>G | NP_001357223.1:n.184+33918A>G | |
| NM_004296.7:c.184+33918A>G | NP_004287.3:n.184+33918A>G | |
| NR_135235.2:n.285+33918A>G |