Linked Data
ClinVar Variation Id:
16093
dbSNP Id:
rs121909743
ExAC:
3:170723136 G / A
gnomAD v2:
3-170723136-G-A
gnomAD v3:
3-171005347-G-A
gnomAD v4:
3-171005347-G-A
COSMIC:
COSM208079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.171005347G>A , CM000665.2:g.171005347G>A | GRCh38 |
| NC_000003.11:g.170723136G>A , CM000665.1:g.170723136G>A | GRCh37 |
| NC_000003.10:g.172205830G>A | NCBI36 |
| NG_008108.1:g.26633C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314251.8:c.901C>T MANE Select | ENSP00000323568.3:p.Arg301Ter | |
| ENST00000314251.7:c.901C>T | ENSP00000323568.3:p.Arg301Ter | |
| ENST00000469787.1:c.*368C>T | ENSP00000417918.1:n.*368C>T | |
| ENST00000497642.5:c.*368C>T | ENSP00000418456.1:n.*368C>T | |
| NM_000340.1:c.901C>T | NP_000331.1:p.Arg301Ter | |
| NM_001278658.1:c.544C>T | NP_001265587.1:p.Arg182Ter | |
| NM_001278659.1:c.382C>T | NP_001265588.1:p.Arg128Ter | |
| XM_011513087.1:c.856C>T | XP_011511389.1:p.Arg286Ter | |
| XM_011513088.1:c.682C>T | XP_011511390.1:p.Arg228Ter | |
| XM_011513089.1:c.382C>T | XP_011511391.1:p.Arg128Ter | |
| XM_011513087.2:c.856C>T | XP_011511389.1:p.Arg286Ter | |
| XM_024453720.1:c.382C>T | XP_024309488.1:p.Arg128Ter | |
| NM_000340.2:c.901C>T MANE Select | NP_000331.1:p.Arg301Ter | |
| NM_001278658.2:c.544C>T | NP_001265587.1:p.Arg182Ter | |
| NM_001278659.2:c.382C>T | NP_001265588.1:p.Arg128Ter |