Linked Data
dbSNP Id:
rs10900598
gnomAD v2:
1-204525568-G-T
gnomAD v3:
1-204556440-G-T
gnomAD v4:
1-204556440-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204556440G>T , CM000663.2:g.204556440G>T | GRCh38 |
| NC_000001.10:g.204525568G>T , CM000663.1:g.204525568G>T | GRCh37 |
| NC_000001.9:g.202792191G>T | NCBI36 |
| NG_029367.1:g.45062G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367182.8:c.*6758G>T MANE Select | ENSP00000356150.3:n.*6758G>T | |
| ENST00000367182.7:c.*6758G>T | ENSP00000356150.3:n.*6758G>T | |
| ENST00000367183.7:c.*6758G>T | ENSP00000356151.3:n.*6758G>T | |
| ENST00000391947.6:c.*7740G>T | ENSP00000375811.2:n.*7740G>T | |
| ENST00000454264.6:c.*6758G>T | ENSP00000396840.2:n.*6758G>T | |
| ENST00000612738.4:c.*6758G>T | ENSP00000478080.1:n.*6758G>T | |
| ENST00000614459.4:c.*6758G>T | ENSP00000482388.1:n.*6758G>T | |
| ENST00000616250.4:c.*7401G>T | ENSP00000478581.1:n.*7401G>T | |
| NM_001204171.1:c.*6758G>T | NP_001191100.1:n.*6758G>T | |
| NM_001204172.1:c.*6758G>T | NP_001191101.1:n.*6758G>T | |
| NM_001278516.1:c.*7740G>T | NP_001265445.1:n.*7740G>T | |
| NM_001278517.1:c.*6758G>T | NP_001265446.1:n.*6758G>T | |
| NM_001278518.1:c.*7401G>T | NP_001265447.1:n.*7401G>T | |
| NM_001278519.1:c.*6758G>T | NP_001265448.1:n.*6758G>T | |
| NM_002393.4:c.*6758G>T | NP_002384.2:n.*6758G>T | |
| XM_011509565.1:c.954-2201G>T | XP_011507867.1:n.954-2201G>T | |
| NM_002393.5:c.*6758G>T MANE Select | NP_002384.2:n.*6758G>T | |
| NM_001204171.2:c.*6758G>T | NP_001191100.1:n.*6758G>T | |
| NM_001204172.2:c.*6758G>T | NP_001191101.1:n.*6758G>T | |
| NM_001278516.2:c.*7740G>T | NP_001265445.1:n.*7740G>T | |
| NM_001278517.2:c.*6758G>T | NP_001265446.1:n.*6758G>T | |
| NM_001278518.2:c.*7401G>T | NP_001265447.1:n.*7401G>T | |
| NM_001278519.2:c.*6758G>T | NP_001265448.1:n.*6758G>T |