Linked Data
dbSNP Id:
rs1157
gnomAD v2:
3-105295461-G-A
gnomAD v3:
3-105576617-G-A
gnomAD v4:
3-105576617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.105576617G>A , CM000665.2:g.105576617G>A | GRCh38 |
| NC_000003.11:g.105295461G>A , CM000665.1:g.105295461G>A | GRCh37 |
| NC_000003.10:g.106778151G>A | NCBI36 |
| NG_029729.1:g.214905G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306107.9:c.*2166G>A MANE Select | ENSP00000305988.5:n.*2166G>A | |
| ENST00000472644.6:c.*2166G>A | ENSP00000419236.2:n.*2166G>A | |
| NM_001243280.1:c.*2166G>A | NP_001230209.1:n.*2166G>A | |
| NM_001627.3:c.*2166G>A | NP_001618.2:n.*2166G>A | |
| NM_001627.4:c.*2166G>A MANE Select | NP_001618.2:n.*2166G>A | |
| NM_001243280.2:c.*2166G>A | NP_001230209.1:n.*2166G>A |