Linked Data
dbSNP Id:
rs759080788
ExAC:
4:40356467 G / A
gnomAD v2:
4-40356467-G-A
gnomAD v4:
4-40354450-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354450G>A , CM000666.2:g.40354450G>A | GRCh38 |
| NC_000004.11:g.40356467G>A , CM000666.1:g.40356467G>A | GRCh37 |
| NC_000004.10:g.40051224G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1370G>A MANE Select | ENSP00000312663.2:p.Arg457Gln | |
| ENST00000310169.2:c.1370G>A | ENSP00000312663.2:p.Arg457Gln | |
| NM_017581.3:c.1370G>A | NP_060051.2:p.Arg457Gln | |
| NM_017581.4:c.1370G>A MANE Select | NP_060051.2:p.Arg457Gln |