Linked Data
ClinVar Variation Id:
4252
ClinVar RCV Id:
RCV003555914
dbSNP Id:
rs121908106
gnomAD v2:
18-47462646-G-A
gnomAD v4:
18-49936276-G-A
PubMed:
PMID:19006234
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49936276G>A , CM000680.2:g.49936276G>A | GRCh38 |
| NC_000018.9:g.47462646G>A , CM000680.1:g.47462646G>A | GRCh37 |
| NC_000018.8:g.45716644G>A | NCBI36 |
| NG_012925.1:g.263806C>T | |
| NG_012925.2:g.263806C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697219.1:c.1776C>T | ||
| ENST00000285039.12:c.1979C>T MANE Select | ENSP00000285039.6:p.Pro660Leu | |
| ENST00000285039.11:c.1979C>T | ENSP00000285039.6:p.Pro660Leu | |
| ENST00000616031.4:c.1906+70C>T | ENSP00000479038.1:n.1906+70C>T | |
| NM_001080467.2:c.1979C>T | NP_001073936.1:p.Pro660Leu | |
| NM_001080467.3:c.1979C>T MANE Select | NP_001073936.1:p.Pro660Leu |