Linked Data
ClinVar Variation Id:
916600
ClinVar RCV Id:
RCV001172352
dbSNP Id:
rs1949420397
PubMed:
PMID:25418537
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13615195A>C , CM000674.2:g.13615195A>C | GRCh38 |
| NC_000012.11:g.13768129A>C , CM000674.1:g.13768129A>C | GRCh37 |
| NC_000012.10:g.13659396A>C | NCBI36 |
| NG_031854.1:g.369894T>G | |
| NG_031854.2:g.371818T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.1573T>G MANE Select | ENSP00000477455.1:p.Phe525Val | |
| ENST00000609686.3:c.1573T>G | ENSP00000477455.1:p.Phe525Val | |
| NM_000834.3:c.1573T>G | NP_000825.2:p.Phe525Val | |
| XM_011520628.1:c.1573T>G | XP_011518930.1:p.Phe525Val | |
| XM_011520629.1:c.1573T>G | XP_011518931.1:p.Phe525Val | |
| XM_011520630.1:c.1573T>G | XP_011518932.1:p.Phe525Val | |
| XR_931372.1:n.276A>C | ||
| XR_931373.1:n.416A>C | ||
| XR_931374.1:n.215A>C | ||
| NM_000834.4:c.1573T>G | NP_000825.2:p.Phe525Val | |
| XM_011520628.2:c.1573T>G | XP_011518930.1:p.Phe525Val | |
| XM_011520629.2:c.1573T>G | XP_011518931.1:p.Phe525Val | |
| XM_017019219.2:c.1573T>G | XP_016874708.1:p.Phe525Val | |
| XR_001749013.1:n.697A>C | ||
| XR_931372.2:n.413A>C | ||
| XR_931373.2:n.555A>C | ||
| NM_000834.5:c.1573T>G MANE Select | NP_000825.2:p.Phe525Val |