Linked Data
ClinVar Variation Id:
14795
ClinVar RCV Id:
RCV000015918
dbSNP Id:
rs121434587
PubMed:
PMID:9722161
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160069961G>T , CM000668.2:g.160069961G>T | GRCh38 |
| NC_000006.11:g.160490993G>T , CM000668.1:g.160490993G>T | GRCh37 |
| NC_000006.10:g.160410983G>T | NCBI36 |
| NG_011785.3:g.105863G>T | |
| NG_011785.4:g.105863G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356956.6:c.4346G>T MANE Select | ENSP00000349437.1:p.Gly1449Val | |
| ENST00000650503.1:n.956G>T | ||
| ENST00000676781.1:c.*2454G>T | ENSP00000504419.1:n.*2454G>T | |
| ENST00000677704.1:c.*217G>T | ENSP00000503314.1:n.*217G>T | |
| ENST00000356956.5:c.4346G>T | ENSP00000349437.1:p.Gly1449Val | |
| NM_000876.2:c.4346G>T | NP_000867.2:p.Gly1449Val | |
| XR_942419.1:n.4263G>T | ||
| NM_000876.3:c.4346G>T | NP_000867.2:p.Gly1449Val | |
| NM_000876.4:c.4346G>T MANE Select | NP_000867.3:p.Gly1449Val |