Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192134G= , CM000681.2:g.15192134G= | GRCh38 |
| NC_000019.9:g.15302945G= , CM000681.1:g.15302945G= | GRCh37 |
| NC_000019.8:g.15163945G= | NCBI36 |
| NG_009819.1:g.13848C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000435.3:c.505C= MANE Select | NP_000426.2:p.Arg169= |
| ENST00000263388.7:c.505C= MANE Select | ENSP00000263388.1:p.Arg169= |
| NM_000435.2:c.505C= | NP_000426.2:p.Arg169= |
| ENST00000263388.6:c.505C= | ENSP00000263388.1:p.Arg169= |
| ENST00000601011.1:c.502C= | ENSP00000473138.1:p.Arg168= |
| XM_005259924.3:c.505C= | XP_005259981.1:p.Arg169= |
| XM_005259924.4:c.505C= | XP_005259981.1:p.Arg169= |