Linked Data
ClinVar Variation Id:
161668
ClinVar RCV Id:
RCV000149204
dbSNP Id:
rs193920775
gnomAD v4:
22-20141427-C-A
COSMIC:
COSM1179199
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20141427C>A , CM000684.2:g.20141427C>A | GRCh38 |
| NC_000022.10:g.20128950C>A , CM000684.1:g.20128950C>A | GRCh37 |
| NC_000022.9:g.18508950C>A | NCBI36 |
| NG_021420.1:g.14587C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334554.12:c.1022C>A MANE Select | ENSP00000334490.7:p.Ala341Asp | |
| ENST00000320602.11:c.746C>A | ENSP00000317804.7:p.Ala249Asp | |
| ENST00000334554.11:c.1022C>A | ENSP00000334490.7:p.Ala341Asp | |
| ENST00000405930.3:c.1022C>A | ENSP00000384716.3:p.Ala341Asp | |
| ENST00000468112.5:n.419C>A | ||
| ENST00000472497.1:n.574C>A | ||
| NM_001185024.1:c.1022C>A | NP_001171953.1:p.Ala341Asp | |
| NM_013373.3:c.1022C>A | NP_037505.1:p.Ala341Asp | |
| XM_006724239.2:c.1022C>A | XP_006724302.1:p.Ala341Asp | |
| NM_001185024.2:c.1022C>A | NP_001171953.1:p.Ala341Asp | |
| NM_013373.4:c.1022C>A MANE Select | NP_037505.1:p.Ala341Asp |