Linked Data
dbSNP Id:
rs529767526
ExAC:
19:7594495 G / A
gnomAD v2:
19-7594495-G-A
gnomAD v3:
19-7529609-G-A
gnomAD v4:
19-7529609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529609G>A , CM000681.2:g.7529609G>A | GRCh38 |
| NC_000019.9:g.7594495G>A , CM000681.1:g.7594495G>A | GRCh37 |
| NC_000019.8:g.7500495G>A | NCBI36 |
| NG_013374.1:g.458G>A | |
| NG_015806.1:g.12000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1256G>A MANE Select | ENSP00000264079.5:p.Arg419Gln | |
| ENST00000264079.10:c.1256G>A | ENSP00000264079.5:p.Arg419Gln | |
| ENST00000394321.9:n.1571G>A | ||
| ENST00000594692.1:n.252G>A | ||
| ENST00000595860.5:n.439G>A | ||
| ENST00000599334.1:c.133G>A | ||
| NM_020533.2:c.1256G>A | NP_065394.1:p.Arg419Gln | |
| NM_020533.3:c.1256G>A MANE Select | NP_065394.1:p.Arg419Gln |