Linked Data
ClinVar Variation Id:
1624563
ClinVar RCV Id:
RCV002106188
dbSNP Id:
rs566243001
ExAC:
19:4816536 C / T
gnomAD v2:
19-4816536-C-T
gnomAD v4:
19-4816524-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816524C>T , CM000681.2:g.4816524C>T | GRCh38 |
| NC_000019.9:g.4816536C>T , CM000681.1:g.4816536C>T | GRCh37 |
| NC_000019.8:g.4767536C>T | NCBI36 |
| NG_031998.1:g.20219G>A , LRG_358:g.20219G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1854G>A MANE Select | ENSP00000248244.4:p.Pro618= | |
| ENST00000248244.5:c.1854G>A | ENSP00000248244.4:p.Pro618= | |
| ENST00000621756.1:c.1437G>A | ENSP00000479467.1:p.Pro479= | |
| NM_182919.3:c.1854G>A , LRG_358t1:c.1854G>A | NP_891549.1:p.Pro618= | |
| NM_001385678.1:c.1812G>A | NP_001372607.1:p.Pro604= | |
| NM_001385679.1:c.1719G>A | NP_001372608.1:p.Pro573= | |
| NM_001385680.1:c.1212G>A | NP_001372609.1:p.Pro404= | |
| NM_182919.4:c.1854G>A MANE Select | NP_891549.1:p.Pro618= |