Linked Data
ClinVar Variation Id:
16057
ClinVar RCV Id:
RCV000017435
dbSNP Id:
rs121434584
ExAC:
19:49477915 G / A
gnomAD v2:
19-49477915-G-A
gnomAD v4:
19-48974658-G-A
COSMIC:
COSM5906581
PubMed:
PMID:17928598
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48974658G>A , CM000681.2:g.48974658G>A | GRCh38 |
| NC_000019.9:g.49477915G>A , CM000681.1:g.49477915G>A | GRCh37 |
| NC_000019.8:g.54169727G>A | NCBI36 |
| NG_012923.1:g.23696C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323798.8:c.1384C>T MANE Select | ENSP00000317904.3:p.Arg462Ter | |
| ENST00000263276.6:c.1192C>T | ENSP00000263276.6:p.Arg398Ter | |
| ENST00000323798.7:c.1384C>T | ENSP00000317904.3:p.Arg462Ter | |
| ENST00000472004.5:n.139C>T | ||
| ENST00000496048.1:n.291C>T | ||
| NM_001161587.1:c.1192C>T | NP_001155059.1:p.Arg398Ter | |
| NM_002103.4:c.1384C>T | NP_002094.2:p.Arg462Ter | |
| NR_027763.1:n.1443C>T | ||
| NM_002103.5:c.1384C>T MANE Select | NP_002094.2:p.Arg462Ter | |
| NM_001161587.2:c.1192C>T | NP_001155059.1:p.Arg398Ter | |
| NR_027763.2:n.1399C>T |