Linked Data
ClinVar Variation Id:
5014
ClinVar RCV Id:
RCV000005317
dbSNP Id:
rs104894192
PubMed:
PMID:11137991
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44275389G>A , CM000673.2:g.44275389G>A | GRCh38 |
| NC_000011.9:g.44296939G>A , CM000673.1:g.44296939G>A | GRCh37 |
| NC_000011.8:g.44253515G>A | NCBI36 |
| NG_015809.1:g.39778C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000652299.1:c.736C>T MANE Select | ENSP00000498217.1:p.Gln246Ter | |
| ENST00000329255.3:c.736C>T | ENSP00000332744.3:p.Gln246Ter | |
| NM_021926.3:c.736C>T | NP_068745.2:p.Gln246Ter | |
| XM_011520264.1:c.736C>T | XP_011518566.1:p.Gln246Ter | |
| XM_011520265.1:c.214C>T | XP_011518567.1:p.Gln72Ter | |
| XM_011520266.1:c.214C>T | XP_011518568.1:p.Gln72Ter | |
| NM_021926.4:c.736C>T MANE Select | NP_068745.2:p.Gln246Ter |