Linked Data
ClinVar Variation Id:
755529
ClinVar RCV Id:
RCV000932961
dbSNP Id:
rs139939816
ExAC:
19:4816712 G / A
gnomAD v2:
19-4816712-G-A
gnomAD v3:
19-4816700-G-A
gnomAD v4:
19-4816700-G-A
COSMIC:
COSM5566404
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816700G>A , CM000681.2:g.4816700G>A | GRCh38 |
| NC_000019.9:g.4816712G>A , CM000681.1:g.4816712G>A | GRCh37 |
| NC_000019.8:g.4767712G>A | NCBI36 |
| NG_031998.1:g.20043C>T , LRG_358:g.20043C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1678C>T MANE Select | ENSP00000248244.4:p.Arg560Trp | |
| ENST00000248244.5:c.1678C>T | ENSP00000248244.4:p.Arg560Trp | |
| ENST00000621756.1:c.1261C>T | ENSP00000479467.1:p.Arg421Trp | |
| NM_182919.3:c.1678C>T , LRG_358t1:c.1678C>T | NP_891549.1:p.Arg560Trp | |
| NM_001385678.1:c.1636C>T | NP_001372607.1:p.Arg546Trp | |
| NM_001385679.1:c.1543C>T | NP_001372608.1:p.Arg515Trp | |
| NM_001385680.1:c.1036C>T | NP_001372609.1:p.Arg346Trp | |
| NM_182919.4:c.1678C>T MANE Select | NP_891549.1:p.Arg560Trp |