Linked Data
dbSNP Id:
rs17022006
gnomAD v2:
3-2938734-G-A
gnomAD v3:
3-2897050-G-A
gnomAD v4:
3-2897050-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.2897050G>A , CM000665.2:g.2897050G>A | GRCh38 |
| NC_000003.11:g.2938734G>A , CM000665.1:g.2938734G>A | GRCh37 |
| NC_000003.10:g.2913734G>A | NCBI36 |
| NG_012827.1:g.801488G>A | |
| NG_012827.2:g.801488G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000418658.6:c.941-3635G>A MANE Select | ENSP00000396010.1:n.941-3635G>A | |
| ENST00000397459.6:c.-44-3635G>A | ENSP00000380600.2:n.-44-3635G>A | |
| ENST00000397461.5:c.941-3635G>A | ENSP00000380602.1:n.941-3635G>A | |
| ENST00000418658.5:c.941-3635G>A | ENSP00000396010.1:n.941-3635G>A | |
| ENST00000427331.5:c.941-3635G>A | ENSP00000413642.1:n.941-3635G>A | |
| ENST00000427741.5:c.*139-3635G>A | ENSP00000396719.1:n.*139-3635G>A | |
| ENST00000430505.6:n.1138-3635G>A | ||
| ENST00000438282.6:n.1377-3635G>A | ||
| NM_001206955.1:c.941-3635G>A | NP_001193884.1:n.941-3635G>A | |
| NM_001206956.1:c.-44-3635G>A | NP_001193885.1:n.-44-3635G>A | |
| NM_175607.2:c.941-3635G>A | NP_783200.1:n.941-3635G>A | |
| NM_175613.2:c.-44-3635G>A | NP_783302.1:n.-44-3635G>A | |
| XM_006713004.2:c.941-3635G>A | XP_006713067.1:n.941-3635G>A | |
| XM_011533425.1:c.941-3635G>A | XP_011531727.1:n.941-3635G>A | |
| XM_011533426.1:c.941-3635G>A | XP_011531728.1:n.941-3635G>A | |
| XM_011533427.1:c.941-3635G>A | XP_011531729.1:n.941-3635G>A | |
| XM_011533428.1:c.941-3635G>A | XP_011531730.1:n.941-3635G>A | |
| XM_011533429.1:c.941-3635G>A | XP_011531731.1:n.941-3635G>A | |
| XM_011533430.1:c.941-3635G>A | XP_011531732.1:n.941-3635G>A | |
| XM_011533431.1:c.908-3635G>A | XP_011531733.1:n.908-3635G>A | |
| NM_001350095.1:c.941-3635G>A | NP_001337024.1:n.941-3635G>A | |
| XM_006713004.4:c.941-3635G>A | XP_006713067.1:n.941-3635G>A | |
| XM_011533425.3:c.941-3635G>A | XP_011531727.1:n.941-3635G>A | |
| XM_011533427.2:c.941-3635G>A | XP_011531729.1:n.941-3635G>A | |
| XM_011533428.2:c.941-3635G>A | XP_011531730.1:n.941-3635G>A | |
| XM_011533429.2:c.941-3635G>A | XP_011531731.1:n.941-3635G>A | |
| XM_011533430.2:c.941-3635G>A | XP_011531732.1:n.941-3635G>A | |
| XM_011533431.2:c.908-3635G>A | XP_011531733.1:n.908-3635G>A | |
| XM_017005782.1:c.941-3635G>A | XP_016861271.1:n.941-3635G>A | |
| XM_017005783.1:c.941-3635G>A | XP_016861272.1:n.941-3635G>A | |
| XM_017005784.2:c.941-3635G>A | XP_016861273.1:n.941-3635G>A | |
| XM_017005785.1:c.941-3635G>A | XP_016861274.1:n.941-3635G>A | |
| XM_017005786.1:c.941-3635G>A | XP_016861275.1:n.941-3635G>A | |
| XM_017005787.1:c.941-3635G>A | XP_016861276.1:n.941-3635G>A | |
| NM_175607.3:c.941-3635G>A MANE Select | NP_783200.1:n.941-3635G>A | |
| NM_001206955.2:c.941-3635G>A | NP_001193884.1:n.941-3635G>A | |
| NM_001206956.2:c.-44-3635G>A | NP_001193885.1:n.-44-3635G>A | |
| NM_001350095.2:c.941-3635G>A | NP_001337024.1:n.941-3635G>A | |
| NM_175613.3:c.-44-3635G>A | NP_783302.1:n.-44-3635G>A |