Linked Data
dbSNP Id:
rs150358662
gnomAD v2:
6-135625097-A-C
gnomAD v3:
6-135303959-A-C
gnomAD v4:
6-135303959-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135303959A>C , CM000668.2:g.135303959A>C | GRCh38 |
| NC_000006.11:g.135625097A>C , CM000668.1:g.135625097A>C | GRCh37 |
| NC_000006.10:g.135666790A>C | NCBI36 |
| NG_008643.1:g.198807T>G | |
| NG_008643.2:g.198807T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265602.11:c.3427-3401T>G MANE Select | ENSP00000265602.6:n.3427-3401T>G | |
| ENST00000527681.2:c.1096-3401T>G | ||
| ENST00000679434.1:c.3612-1142T>G | ENSP00000505592.1:n.3612-1142T>G | |
| ENST00000679450.1:c.3166-3401T>G | ENSP00000506494.1:n.3166-3401T>G | |
| ENST00000679589.1:c.*3455-3401T>G | ENSP00000506644.1:n.*3455-3401T>G | |
| ENST00000679668.1:c.3549-1142T>G | ENSP00000505364.1:n.3549-1142T>G | |
| ENST00000679672.1:c.3427-1142T>G | ENSP00000505697.1:n.3427-1142T>G | |
| ENST00000679711.1:c.1721-3401T>G | ||
| ENST00000679742.1:c.3427-1142T>G | ENSP00000504890.1:n.3427-1142T>G | |
| ENST00000679890.1:n.1918-3401T>G | ||
| ENST00000679925.1:c.3427-3401T>G | ENSP00000505502.1:n.3427-3401T>G | |
| ENST00000679943.1:c.3427-3401T>G | ENSP00000505663.1:n.3427-3401T>G | |
| ENST00000680071.1:n.1941-1142T>G | ||
| ENST00000680119.1:c.3504-1142T>G | ENSP00000506403.1:n.3504-1142T>G | |
| ENST00000680337.1:c.885-3401T>G | ||
| ENST00000680561.1:n.6170-3401T>G | ||
| ENST00000680826.1:c.3612-3401T>G | ENSP00000505224.1:n.3612-3401T>G | |
| ENST00000680840.1:c.3549-1142T>G | ENSP00000505809.1:n.3549-1142T>G | |
| ENST00000680965.1:c.*881-3401T>G | ENSP00000505398.1:n.*881-3401T>G | |
| ENST00000681022.1:c.3427-3401T>G | ENSP00000505121.1:n.3427-3401T>G | |
| ENST00000681057.1:n.2744-18312T>G | ||
| ENST00000681196.1:n.1941-1142T>G | ||
| ENST00000681301.1:c.3274-3401T>G | ENSP00000505093.1:n.3274-3401T>G | |
| ENST00000681331.1:n.1156-3401T>G | ||
| ENST00000681332.1:n.3944-3401T>G | ||
| ENST00000681340.1:c.3427-3401T>G | ENSP00000505666.1:n.3427-3401T>G | |
| ENST00000681365.1:c.3427-3401T>G | ENSP00000506604.1:n.3427-3401T>G | |
| ENST00000681488.1:c.3296-3401T>G | ENSP00000505884.1:n.3296-3401T>G | |
| ENST00000681522.1:c.3427-3401T>G | ENSP00000506005.1:n.3427-3401T>G | |
| ENST00000681556.1:n.1009T>G | ||
| ENST00000681718.1:c.*504-1142T>G | ENSP00000505266.1:n.*504-1142T>G | |
| ENST00000681754.1:n.714T>G | ||
| ENST00000681828.1:c.3549-1118T>G | ENSP00000505608.1:n.3549-1118T>G | |
| ENST00000681841.1:c.3427-3401T>G | ENSP00000504965.1:n.3427-3401T>G | |
| ENST00000681860.1:c.3040-1142T>G | ENSP00000506250.1:n.3040-1142T>G | |
| ENST00000265602.10:c.3427-3401T>G | ENSP00000265602.6:n.3427-3401T>G | |
| ENST00000367799.6:c.1926-3401T>G | ||
| ENST00000367800.8:c.3427-3401T>G | ENSP00000356774.4:n.3427-3401T>G | |
| ENST00000457866.6:c.3427-3401T>G | ENSP00000388650.2:n.3427-3401T>G | |
| ENST00000475846.6:c.1619-1142T>G | ||
| ENST00000533029.1:n.317-1142T>G | ||
| NM_001134830.1:c.3427-3401T>G | NP_001128302.1:n.3427-3401T>G | |
| NM_001134831.1:c.3427-3401T>G | NP_001128303.1:n.3427-3401T>G | |
| NM_017651.4:c.3427-3401T>G | NP_060121.3:n.3427-3401T>G | |
| XM_011535910.1:c.3427-3401T>G | XP_011534212.1:n.3427-3401T>G | |
| XM_011535911.1:c.3427-3401T>G | XP_011534213.1:n.3427-3401T>G | |
| XM_011535912.1:c.*5-3401T>G | XP_011534214.1:n.*5-3401T>G | |
| XM_011535914.1:c.3427-3401T>G | XP_011534216.1:n.3427-3401T>G | |
| XM_011535915.1:c.3427-3401T>G | XP_011534217.1:n.3427-3401T>G | |
| XR_942488.1:n.3859-1142T>G | ||
| XR_942489.1:n.3859-1142T>G | ||
| XR_942490.1:n.3859-1142T>G | ||
| XR_942491.1:n.3859-1142T>G | ||
| XR_942493.1:n.3720-1142T>G | ||
| XR_942494.1:n.3557-1142T>G | ||
| NM_001350503.1:c.3427-3401T>G | NP_001337432.1:n.3427-3401T>G | |
| NM_001350504.1:c.3427-3401T>G | NP_001337433.1:n.3427-3401T>G | |
| XM_011535910.3:c.3427-3401T>G | XP_011534212.1:n.3427-3401T>G | |
| XM_011535911.3:c.3427-3401T>G | XP_011534213.1:n.3427-3401T>G | |
| XM_017010978.2:c.*5-3401T>G | XP_016866467.1:n.*5-3401T>G | |
| XM_017010980.2:c.3427-3401T>G | XP_016866469.1:n.3427-3401T>G | |
| XM_017010981.2:c.3373-3401T>G | XP_016866470.1:n.3373-3401T>G | |
| XM_024446479.1:c.3373-3401T>G | XP_024302247.1:n.3373-3401T>G | |
| XR_001743479.2:n.3956-1142T>G | ||
| XR_001743480.2:n.3956-1142T>G | ||
| XR_001743481.2:n.3956-1142T>G | ||
| XR_001743482.2:n.3956-1142T>G | ||
| XR_001743483.2:n.3956-1142T>G | ||
| XR_001743484.2:n.3817-1142T>G | ||
| XR_001743485.2:n.3817-1142T>G | ||
| XR_001743486.2:n.3817-1142T>G | ||
| XR_001743487.2:n.3939-1142T>G | ||
| XR_001743488.1:n.4181-1142T>G | ||
| XR_001743489.2:n.3654-1142T>G | ||
| XR_001743490.2:n.3939-1142T>G | ||
| XR_002956286.1:n.3698-3401T>G | ||
| XR_002956287.1:n.3698-3401T>G | ||
| NM_001134831.2:c.3427-3401T>G MANE Select | NP_001128303.1:n.3427-3401T>G | |
| NM_001134830.2:c.3427-3401T>G | NP_001128302.1:n.3427-3401T>G | |
| NM_001350503.2:c.3427-3401T>G | NP_001337432.1:n.3427-3401T>G | |
| NM_001350504.2:c.3427-3401T>G | NP_001337433.1:n.3427-3401T>G | |
| NM_017651.5:c.3427-3401T>G | NP_060121.3:n.3427-3401T>G |