Linked Data
ClinVar Variation Id:
56501
ClinVar RCV Id:
RCV000049914
dbSNP Id:
rs386833939
PubMed:
PMID:11854170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35830956C>A , CM000681.2:g.35830956C>A | GRCh38 |
| NC_000019.9:g.36321858C>A , CM000681.1:g.36321858C>A | GRCh37 |
| NC_000019.8:g.41013698C>A | NCBI36 |
| NG_013356.2:g.43332G>T , LRG_693:g.43332G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.3482G>T MANE Select | ENSP00000368190.4:p.Gly1161Val | |
| ENST00000353632.6:c.3362G>T | ENSP00000343634.5:p.Gly1121Val | |
| ENST00000378910.9:c.3482G>T | ENSP00000368190.4:p.Gly1161Val | |
| NM_004646.3:c.3482G>T , LRG_693t1:c.3482G>T | NP_004637.1:p.Gly1161Val | |
| NM_004646.4:c.3482G>T MANE Select | NP_004637.1:p.Gly1161Val |