Linked Data
ClinVar Variation Id:
161465
ClinVar RCV Id:
RCV000148999
dbSNP Id:
rs193920972
gnomAD v4:
17-72121452-G-A
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72121452G>A , CM000679.2:g.72121452G>A | GRCh38 |
| NC_000017.10:g.70117593G>A , CM000679.1:g.70117593G>A | GRCh37 |
| NC_000017.9:g.67629188G>A | NCBI36 |
| NG_012490.1:g.5433G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.61G>A MANE Select | ENSP00000245479.2:p.Ala21Thr | |
| ENST00000245479.2:c.61G>A | ENSP00000245479.2:p.Ala21Thr | |
| NM_000346.3:c.61G>A | NP_000337.1:p.Ala21Thr | |
| NM_000346.4:c.61G>A MANE Select | NP_000337.1:p.Ala21Thr |