Linked Data
ClinVar Variation Id:
9056
ClinVar RCV Id:
RCV003159091
dbSNP Id:
rs121434636
gnomAD v2:
9-94060275-G-A
gnomAD v3:
9-91297993-G-A
gnomAD v4:
9-91297993-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91297993G>A , CM000671.2:g.91297993G>A | GRCh38 |
| NC_000009.11:g.94060275G>A , CM000671.1:g.94060275G>A | GRCh37 |
| NC_000009.10:g.93100096G>A | NCBI36 |
| NG_008017.1:g.68932C>T , LRG_449:g.68932C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375731.9:c.589C>T MANE Select | ENSP00000364883.5:p.Arg197Ter | |
| ENST00000303617.5:c.502C>T | ENSP00000307334.5:p.Arg168Ter | |
| ENST00000375731.8:c.589C>T | ENSP00000364883.4:p.Arg197Ter | |
| ENST00000478465.5:n.749C>T | ||
| NM_001306190.1:c.502C>T | NP_001293119.1:p.Arg168Ter | |
| NM_001698.2:c.589C>T , LRG_449t1:c.589C>T | NP_001689.1:p.Arg197Ter | |
| XM_005252066.2:c.619C>T | XP_005252123.1:p.Arg207Ter | |
| XM_005252067.3:c.619C>T | XP_005252124.1:p.Arg207Ter | |
| XM_005252069.3:c.619C>T | XP_005252126.1:p.Arg207Ter | |
| XM_005252072.1:c.589C>T | XP_005252129.1:p.Arg197Ter | |
| XM_005252073.2:c.127C>T | XP_005252130.1:p.Arg43Ter | |
| XM_006717150.2:c.532C>T | XP_006717213.1:p.Arg178Ter | |
| XM_011518800.1:c.619C>T | XP_011517102.1:p.Arg207Ter | |
| XM_011518801.1:c.265C>T | XP_011517103.1:p.Arg89Ter | |
| XM_011518802.1:c.262C>T | XP_011517104.1:p.Arg88Ter | |
| NM_001351431.1:c.262C>T | NP_001338360.1:p.Arg88Ter | |
| NM_001351432.1:c.262C>T | NP_001338361.1:p.Arg88Ter | |
| NM_001351433.1:c.262C>T | NP_001338362.1:p.Arg88Ter | |
| XM_005252066.3:c.619C>T | XP_005252123.1:p.Arg207Ter | |
| XM_005252067.4:c.619C>T | XP_005252124.1:p.Arg207Ter | |
| XM_005252069.4:c.619C>T | XP_005252126.1:p.Arg207Ter | |
| XM_005252072.2:c.589C>T | XP_005252129.1:p.Arg197Ter | |
| XM_006717150.3:c.532C>T | XP_006717213.1:p.Arg178Ter | |
| XM_011518800.3:c.619C>T | XP_011517102.1:p.Arg207Ter | |
| XM_017014849.1:c.589C>T | XP_016870338.1:p.Arg197Ter | |
| XR_001746328.2:n.672C>T | ||
| XR_001746329.2:n.624C>T | ||
| NM_001698.3:c.589C>T MANE Select | NP_001689.1:p.Arg197Ter | |
| NM_001306190.2:c.502C>T | NP_001293119.1:p.Arg168Ter | |
| NM_001351431.2:c.262C>T | NP_001338360.1:p.Arg88Ter | |
| NM_001351432.2:c.262C>T | NP_001338361.1:p.Arg88Ter | |
| NM_001351433.2:c.262C>T | NP_001338362.1:p.Arg88Ter |