Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15191820G= , CM000681.2:g.15191820G= | GRCh38 |
| NC_000019.9:g.15302631G= , CM000681.1:g.15302631G= | GRCh37 |
| NC_000019.8:g.15163631G= | NCBI36 |
| NG_009819.1:g.14162C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.727C= MANE Select | ENSP00000263388.1:p.His243= | |
| ENST00000263388.6:c.727C= | ENSP00000263388.1:p.His243= | |
| ENST00000601011.1:c.724C= | ENSP00000473138.1:p.His242= | |
| NM_000435.2:c.727C= | NP_000426.2:p.His243= | |
| XM_005259924.3:c.727C= | XP_005259981.1:p.His243= | |
| XM_005259924.4:c.727C= | XP_005259981.1:p.His243= | |
| NM_000435.3:c.727C= MANE Select | NP_000426.2:p.His243= |