Linked Data
dbSNP Id:
rs8676
gnomAD v2:
1-108113865-G-A
gnomAD v3:
1-107571243-G-A
gnomAD v4:
1-107571243-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.107571243G>A , CM000663.2:g.107571243G>A | GRCh38 |
| NC_000001.10:g.108113865G>A , CM000663.1:g.108113865G>A | GRCh37 |
| NC_000001.9:g.107915388G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370056.9:c.*2088C>T MANE Select | ENSP00000359073.4:n.*2088C>T | |
| ENST00000370056.8:c.*2088C>T | ENSP00000359073.4:n.*2088C>T | |
| NM_001079874.1:c.*2088C>T | NP_001073343.1:n.*2088C>T | |
| NM_006113.4:c.*2088C>T | NP_006104.4:n.*2088C>T | |
| XM_005270360.1:c.*2088C>T | XP_005270417.1:n.*2088C>T | |
| XM_011540502.1:c.*2088C>T | XP_011538804.1:n.*2088C>T | |
| XM_011540503.1:c.*2088C>T | XP_011538805.1:n.*2088C>T | |
| XR_946522.1:n.4712C>T | ||
| XM_005270360.2:c.*2088C>T | XP_005270417.1:n.*2088C>T | |
| XM_017000053.1:c.*2088C>T | XP_016855542.1:n.*2088C>T | |
| XM_017000055.1:c.*2088C>T | XP_016855544.1:n.*2088C>T | |
| XM_017000056.1:c.*2088C>T | XP_016855545.1:n.*2088C>T | |
| XM_024450319.1:c.*2088C>T | XP_024306087.1:n.*2088C>T | |
| XR_001736913.1:n.4633C>T | ||
| NM_006113.5:c.*2088C>T MANE Select | NP_006104.4:n.*2088C>T | |
| NM_001079874.2:c.*2088C>T | NP_001073343.1:n.*2088C>T |