Linked Data
ClinVar Variation Id:
185829
dbSNP Id:
rs745945481
ExAC:
17:29664858 A / G
gnomAD v2:
17-29664858-A-G
gnomAD v3:
17-31337840-A-G
gnomAD v4:
17-31337840-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31337840A>G , CM000679.2:g.31337840A>G | GRCh38 |
| NC_000017.10:g.29664858A>G , CM000679.1:g.29664858A>G | GRCh37 |
| NC_000017.9:g.26688984A>G | NCBI36 |
| NG_009018.1:g.247864A>G , LRG_214:g.247864A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6646A>G | ENSP00000512431.1:p.Thr2216Ala | |
| ENST00000684826.1:c.1228A>G | ENSP00000509994.1:p.Thr410Ala | |
| ENST00000684998.1:n.1778A>G | ||
| ENST00000687027.1:c.820A>G | ENSP00000508715.1:p.Thr274Ala | |
| ENST00000687863.1:n.3309A>G | ||
| ENST00000691014.1:c.6694A>G | ENSP00000510595.1:p.Thr2232Ala | |
| ENST00000693617.1:c.1228A>G | ENSP00000510031.1:p.Thr410Ala | |
| ENST00000358273.9:c.6664A>G MANE Select | ENSP00000351015.4:p.Thr2222Ala | |
| ENST00000356175.7:c.6601A>G | ENSP00000348498.3:p.Thr2201Ala | |
| ENST00000358273.8:c.6664A>G | ENSP00000351015.4:p.Thr2222Ala | |
| ENST00000456735.6:c.5599A>G | ENSP00000389907.2:p.Thr1867Ala | |
| ENST00000471572.6:c.24A>G | ||
| ENST00000579081.5:c.6800A>G | ENSP00000462408.1:n.6800A>G | |
| ENST00000581790.5:c.24A>G | ||
| ENST00000584328.1:n.78A>G | ||
| NM_000267.3:c.6601A>G , LRG_214t1:c.6601A>G | NP_000258.1:p.Thr2201Ala | |
| NM_001042492.2:c.6664A>G , LRG_214t2:c.6664A>G | NP_001035957.1:p.Thr2222Ala | |
| XM_005257983.1:c.6664A>G | XP_005258040.1:p.Thr2222Ala | |
| XM_005257984.1:c.6601A>G | XP_005258041.1:p.Thr2201Ala | |
| XM_006721922.1:c.6694A>G | XP_006721985.1:p.Thr2232Ala | |
| XM_006721923.2:c.6655A>G | XP_006721986.1:p.Thr2219Ala | |
| XM_006721924.1:c.6694A>G | XP_006721987.1:p.Thr2232Ala | |
| XM_006721925.1:c.6631A>G | XP_006721988.1:p.Thr2211Ala | |
| XM_006721926.2:c.6694A>G | XP_006721989.1:p.Thr2232Ala | |
| XM_006721927.1:c.6694A>G | XP_006721990.1:p.Thr2232Ala | |
| XM_011524852.1:c.6691A>G | XP_011523154.1:p.Thr2231Ala | |
| XM_011524853.1:c.6655A>G | XP_011523155.1:p.Thr2219Ala | |
| XM_011524854.1:c.6655A>G | XP_011523156.1:p.Thr2219Ala | |
| XM_011524855.1:c.6655A>G | XP_011523157.1:p.Thr2219Ala | |
| XM_011524856.1:c.6655A>G | XP_011523158.1:p.Thr2219Ala | |
| XM_011524857.1:c.6694A>G | XP_011523159.1:p.Thr2232Ala | |
| NM_001042492.3:c.6664A>G MANE Select | NP_001035957.1:p.Thr2222Ala |