Linked Data
ClinVar Variation Id:
330487
ClinVar RCV Id:
RCV000348320
dbSNP Id:
rs146187044
ExAC:
19:7589992 G / A
gnomAD v2:
19-7589992-G-A
gnomAD v3:
19-7525106-G-A
gnomAD v4:
19-7525106-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525106G>A , CM000681.2:g.7525106G>A | GRCh38 |
| NC_000019.9:g.7589992G>A , CM000681.1:g.7589992G>A | GRCh37 |
| NC_000019.8:g.7495992G>A | NCBI36 |
| NG_015806.1:g.7497G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.177G>A MANE Select | ENSP00000264079.5:p.Lys59= | |
| ENST00000264079.10:c.177G>A | ENSP00000264079.5:p.Lys59= | |
| ENST00000394321.9:n.257G>A | ||
| ENST00000596390.1:n.293G>A | ||
| ENST00000601003.1:c.177G>A | ENSP00000469074.1:p.Lys59= | |
| NM_020533.2:c.177G>A | NP_065394.1:p.Lys59= | |
| NM_020533.3:c.177G>A MANE Select | NP_065394.1:p.Lys59= |