Linked Data
dbSNP Id:
rs374821015
ExAC:
19:7589927 G / A
gnomAD v2:
19-7589927-G-A
gnomAD v3:
19-7525041-G-A
gnomAD v4:
19-7525041-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525041G>A , CM000681.2:g.7525041G>A | GRCh38 |
| NC_000019.9:g.7589927G>A , CM000681.1:g.7589927G>A | GRCh37 |
| NC_000019.8:g.7495927G>A | NCBI36 |
| NG_015806.1:g.7432G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.112G>A MANE Select | ENSP00000264079.5:p.Glu38Lys | |
| ENST00000264079.10:c.112G>A | ENSP00000264079.5:p.Glu38Lys | |
| ENST00000394321.9:n.192G>A | ||
| ENST00000596390.1:n.228G>A | ||
| ENST00000601003.1:c.112G>A | ENSP00000469074.1:p.Glu38Lys | |
| NM_020533.2:c.112G>A | NP_065394.1:p.Glu38Lys | |
| NM_020533.3:c.112G>A MANE Select | NP_065394.1:p.Glu38Lys |