Linked Data
ClinVar Variation Id:
16068
dbSNP Id:
rs121918414
ExAC:
5:151235898 T / C
gnomAD v2:
5-151235898-T-C
gnomAD v3:
5-151856337-T-C
gnomAD v4:
5-151856337-T-C
PubMed:
PMID:11702206
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151856337T>C , CM000667.2:g.151856337T>C | GRCh38 |
| NC_000005.9:g.151235898T>C , CM000667.1:g.151235898T>C | GRCh37 |
| NC_000005.8:g.151216091T>C | NCBI36 |
| NG_011764.1:g.73500A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274576.9:c.523A>G MANE Select | ENSP00000274576.5:p.Met175Val | |
| ENST00000274576.8:c.523A>G | ENSP00000274576.4:p.Met175Val | |
| ENST00000455880.2:c.523A>G | ENSP00000411593.2:p.Met175Val | |
| ENST00000462581.6:c.*281A>G | ENSP00000430595.1:n.*281A>G | |
| ENST00000471351.2:n.806A>G | ||
| NM_000171.3:c.523A>G | NP_000162.2:p.Met175Val | |
| NM_001146040.1:c.523A>G | NP_001139512.1:p.Met175Val | |
| NM_001292000.1:c.274A>G | NP_001278929.1:p.Met92Val | |
| XM_005268412.2:c.523A>G | XP_005268469.1:p.Met175Val | |
| XR_002956230.1:n.42-1369T>C | ||
| NM_000171.4:c.523A>G MANE Select | NP_000162.2:p.Met175Val | |
| NM_001146040.2:c.523A>G | NP_001139512.1:p.Met175Val | |
| NM_001292000.2:c.274A>G | NP_001278929.1:p.Met92Val |