Linked Data
ClinVar Variation Id:
345137
dbSNP Id:
rs886058468
gnomAD v2:
3-39424989-G-A
gnomAD v3:
3-39383498-G-A
gnomAD v4:
3-39383498-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39383498G>A , CM000665.2:g.39383498G>A | GRCh38 |
| NC_000003.11:g.39424989G>A , CM000665.1:g.39424989G>A | GRCh37 |
| NC_000003.10:g.39399993G>A | NCBI36 |
| NG_016931.1:g.5175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645630.1:c.-227G>A | ENSP00000493714.1:n.-227G>A | |
| ENST00000648579.1:c.-227G>A | ENSP00000497638.1:n.-227G>A | |
| ENST00000650617.1:c.-227G>A MANE Select | ENSP00000497532.1:n.-227G>A | |
| ENST00000273158.8:c.-227G>A | ENSP00000273158.3:n.-227G>A | |
| ENST00000431510.1:c.-267G>A | ENSP00000394244.1:n.-267G>A | |
| NM_017875.2:c.-227G>A | NP_060345.2:n.-227G>A | |
| XM_006713214.1:c.-267G>A | XP_006713277.1:n.-267G>A | |
| XM_011533871.1:c.-227G>A | XP_011532173.1:n.-227G>A | |
| NM_001354798.1:c.-227G>A | NP_001341727.1:n.-227G>A | |
| NM_017875.4:c.-227G>A MANE Select | NP_060345.2:n.-227G>A | |
| XM_006713214.2:c.-267G>A | XP_006713277.1:n.-267G>A | |
| XR_002959626.1:n.171C>T | ||
| XR_940747.3:n.171C>T | ||
| NM_001354798.2:c.-227G>A | NP_001341727.1:n.-227G>A |