Linked Data
ClinVar Variation Id:
97341
ClinVar RCV Id:
RCV000083589
dbSNP Id:
rs72558455
PubMed:
PMID:11793468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408993C>T , CM000685.2:g.38408993C>T | GRCh38 |
| NC_000023.10:g.38268246C>T , CM000685.1:g.38268246C>T | GRCh37 |
| NC_000023.9:g.38153190C>T | NCBI36 |
| NG_008471.1:g.61511C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.835C>T MANE Select | ENSP00000039007.4:p.Gln279Ter | |
| ENST00000643344.1:c.*585C>T | ENSP00000496606.1:n.*585C>T | |
| ENST00000039007.4:c.835C>T | ENSP00000039007.4:p.Gln279Ter | |
| ENST00000465127.1:c.172-257128C>T | ENSP00000417050.1:n.172-257128C>T | |
| NM_000531.5:c.835C>T | NP_000522.3:p.Gln279Ter | |
| XM_017029556.1:c.835C>T | XP_016885045.1:p.Gln279Ter | |
| NM_000531.6:c.835C>T MANE Select | NP_000522.3:p.Gln279Ter |