gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52923832C>A , CM000680.2:g.52923832C>A | GRCh38 |
| NC_000018.9:g.50450202C>A , CM000680.1:g.50450202C>A | GRCh37 |
| NC_000018.8:g.48704200C>A | NCBI36 |
| NG_013341.1:g.588661C>A | |
| NG_013341.2:g.588661C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.823C>A MANE Select | ENSP00000389140.2:p.Arg275= | |
| ENST00000304775.12:c.624C>A | ||
| ENST00000412726.5:c.754C>A | ENSP00000397322.2:p.Arg252= | |
| ENST00000442544.6:c.823C>A | ENSP00000389140.2:p.Arg275= | |
| ENST00000579883.1:n.34C>A | ||
| ENST00000584710.5:n.49C>A | ||
| NM_005215.3:c.823C>A | NP_005206.2:p.Arg275= | |
| XM_011525843.1:c.823C>A | XP_011524145.1:p.Arg275= | |
| XM_011525845.1:c.823C>A | XP_011524147.1:p.Arg275= | |
| XM_011525846.1:c.823C>A | XP_011524148.1:p.Arg275= | |
| XM_017025568.1:c.823C>A | XP_016881057.1:p.Arg275= | |
| XM_017025569.1:c.823C>A | XP_016881058.1:p.Arg275= | |
| NM_005215.4:c.823C>A MANE Select | NP_005206.2:p.Arg275= |