gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136062674G>A , CM000667.2:g.136062674G>A | GRCh38 |
| NC_000005.9:g.135398363G>A , CM000667.1:g.135398363G>A | GRCh37 |
| NC_000005.8:g.135426262G>A | NCBI36 |
| NG_012646.1:g.38780G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1998G>A MANE Select | ENSP00000416330.2:p.Arg666= | |
| ENST00000442011.6:c.1998G>A | ENSP00000416330.2:p.Arg666= | |
| ENST00000503087.1:c.213-512G>A | ||
| ENST00000504411.1:n.402G>A | ||
| ENST00000506699.5:n.2515G>A | ||
| ENST00000507018.5:c.1976G>A | ||
| ENST00000508076.5:c.144G>A | ENSP00000423935.1:p.Arg48= | |
| ENST00000514554.5:c.1059-512G>A | ||
| NM_000358.2:c.1998G>A | NP_000349.1:p.Arg666= | |
| NM_000358.3:c.1998G>A MANE Select | NP_000349.1:p.Arg666= |