Linked Data
ClinVar Variation Id:
8870
ClinVar RCV Id:
RCV000009420
dbSNP Id:
rs121917856
gnomAD v4:
2-219060331-G-A
PubMed:
PMID:12632327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060331G>A , CM000664.2:g.219060331G>A | GRCh38 |
| NC_000002.11:g.219925053G>A , CM000664.1:g.219925053G>A | GRCh37 |
| NC_000002.10:g.219633297G>A | NCBI36 |
| NG_016741.1:g.5186C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295731.7:c.137C>T MANE Select | ENSP00000295731.5:p.Pro46Leu | |
| ENST00000295731.6:c.137C>T | ENSP00000295731.5:p.Pro46Leu | |
| NM_002181.3:c.137C>T | NP_002172.2:p.Pro46Leu | |
| NM_002181.4:c.137C>T MANE Select | NP_002172.2:p.Pro46Leu |