Linked Data
ClinVar Variation Id:
8761
ClinVar RCV Id:
RCV000009306
dbSNP Id:
rs121918536
ExAC:
5:37815756 G / C
gnomAD v2:
5-37815756-G-C
gnomAD v3:
5-37815654-G-C
gnomAD v4:
5-37815654-G-C
PubMed:
PMID:10917288
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37815654G>C , CM000667.2:g.37815654G>C | GRCh38 |
| NC_000005.9:g.37815756G>C , CM000667.1:g.37815756G>C | GRCh37 |
| NC_000005.8:g.37851513G>C | NCBI36 |
| NG_011675.2:g.29027C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326524.7:c.633C>G MANE Select | ENSP00000317145.2:p.Ile211Met | |
| ENST00000326524.6:c.633C>G | ENSP00000317145.2:p.Ile211Met | |
| ENST00000344622.8:c.555C>G | ENSP00000339703.4:p.Ile185Met | |
| ENST00000381826.8:c.606C>G | ENSP00000371248.4:p.Ile202Met | |
| ENST00000427982.5:c.684C>G | ENSP00000409007.1:p.Ile228Met | |
| ENST00000515058.5:c.555C>G | ENSP00000425928.1:p.Ile185Met | |
| ENST00000620847.1:c.477C>G | ENSP00000478722.1:p.Ile159Met | |
| NM_000514.3:c.633C>G | NP_000505.1:p.Ile211Met | |
| NM_001190468.1:c.684C>G | NP_001177397.1:p.Ile228Met | |
| NM_001190469.1:c.606C>G | NP_001177398.1:p.Ile202Met | |
| NM_001278098.1:c.477C>G | NP_001265027.1:p.Ile159Met | |
| NM_199231.2:c.555C>G | NP_954701.1:p.Ile185Met | |
| XM_011514028.1:c.633C>G | XP_011512330.1:p.Ile211Met | |
| XM_011514029.1:c.633C>G | XP_011512331.1:p.Ile211Met | |
| XM_011514030.1:c.477C>G | XP_011512332.1:p.Ile159Met | |
| XM_011514030.3:c.477C>G | XP_011512332.1:p.Ile159Met | |
| XM_017009337.2:c.555C>G | XP_016864826.1:p.Ile185Met | |
| NM_000514.4:c.633C>G MANE Select | NP_000505.1:p.Ile211Met |