gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155309691T>A , CM000663.2:g.155309691T>A | GRCh38 |
| NC_000001.10:g.155279482T>A , CM000663.1:g.155279482T>A | GRCh37 |
| NC_000001.9:g.153546106T>A | NCBI36 |
| NG_045218.1:g.5944T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368356.9:c.-1-98T>A MANE Select | ENSP00000357340.4:n.-1-98T>A | |
| ENST00000356657.10:c.-1-98T>A | ENSP00000349078.6:n.-1-98T>A | |
| ENST00000368356.8:c.-1-98T>A | ENSP00000357340.4:n.-1-98T>A | |
| ENST00000447866.5:c.-22-352T>A | ENSP00000391755.1:n.-22-352T>A | |
| ENST00000461507.5:n.164-373T>A | ||
| ENST00000465559.5:c.-37-62T>A | ENSP00000484099.1:n.-37-62T>A | |
| ENST00000467076.5:c.-1-373T>A | ENSP00000480142.1:n.-1-373T>A | |
| ENST00000468479.5:n.212-373T>A | ||
| ENST00000470171.5:n.110-373T>A | ||
| ENST00000471117.5:n.103+726T>A | ||
| ENST00000474345.5:c.-1-373T>A | ENSP00000478032.1:n.-1-373T>A | |
| ENST00000477057.5:n.93-373T>A | ||
| ENST00000487002.1:n.778T>A | ||
| ENST00000489003.5:n.94-373T>A | ||
| ENST00000491013.5:c.-37-62T>A | ENSP00000479557.1:n.-37-62T>A | |
| ENST00000495308.5:n.74-352T>A | ||
| ENST00000611010.4:c.-175+726T>A | ENSP00000483188.1:n.-175+726T>A | |
| ENST00000612683.1:c.-1-373T>A | ENSP00000478235.1:n.-1-373T>A | |
| NM_001135821.1:c.-1-98T>A | NP_001129293.1:n.-1-98T>A | |
| NM_001135822.1:c.-1-373T>A | NP_001129294.1:n.-1-373T>A | |
| NM_001242824.1:c.-22-352T>A | NP_001229753.1:n.-22-352T>A | |
| NM_001242825.1:c.-175+726T>A | NP_001229754.1:n.-175+726T>A | |
| NM_002004.3:c.-1-98T>A | NP_001995.1:n.-1-98T>A | |
| XM_005244962.1:c.-1-373T>A | XP_005245019.1:n.-1-373T>A | |
| XM_005244963.1:c.-22-352T>A | XP_005245020.1:n.-22-352T>A | |
| XM_024454066.1:c.-1-98T>A | XP_024309834.1:n.-1-98T>A | |
| XM_024454070.1:c.-1-98T>A | XP_024309838.1:n.-1-98T>A | |
| XM_024454071.1:c.-22-352T>A | XP_024309839.1:n.-22-352T>A | |
| XM_024454072.1:c.-1-373T>A | XP_024309840.1:n.-1-373T>A | |
| XM_024454073.1:c.-22-352T>A | XP_024309841.1:n.-22-352T>A | |
| XM_024454074.1:c.-1-373T>A | XP_024309842.1:n.-1-373T>A | |
| XM_024454076.1:c.-175+726T>A | XP_024309844.1:n.-175+726T>A | |
| NM_001135821.2:c.-1-98T>A | NP_001129293.1:n.-1-98T>A | |
| NM_001135822.2:c.-1-373T>A | NP_001129294.1:n.-1-373T>A | |
| NM_001242824.2:c.-22-352T>A | NP_001229753.1:n.-22-352T>A | |
| NM_002004.4:c.-1-98T>A MANE Select | NP_001995.1:n.-1-98T>A | |
| NM_001242825.2:c.-175+726T>A | NP_001229754.1:n.-175+726T>A | |
| NM_001378424.1:c.-1-373T>A | NP_001365353.1:n.-1-373T>A | |
| NM_001378425.1:c.-22-352T>A | NP_001365354.1:n.-22-352T>A |