Linked Data
ClinVar Variation Id:
1543
dbSNP Id:
rs118204071
gnomAD v4:
8-19959322-G-A
PubMed:
PMID:8096693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19959322G>A , CM000670.2:g.19959322G>A | GRCh38 |
| NC_000008.10:g.19816833G>A , CM000670.1:g.19816833G>A | GRCh37 |
| NC_000008.9:g.19861113G>A | NCBI36 |
| NG_008855.1:g.25252G>A | |
| NG_008855.2:g.62606G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1081G>A MANE Select | ENSP00000497642.1:p.Ala361Thr | |
| ENST00000650478.1:c.80-1579G>A | ENSP00000497560.1:n.80-1579G>A | |
| ENST00000311322.8:c.1081G>A | ENSP00000309757.6:p.Ala361Thr | |
| NM_000237.2:c.1081G>A | NP_000228.1:p.Ala361Thr | |
| NM_000237.3:c.1081G>A MANE Select | NP_000228.1:p.Ala361Thr |