Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887094G= , CM000681.2:g.12887094G= | GRCh38 |
| NC_000019.9:g.12997908G= , CM000681.1:g.12997908G= | GRCh37 |
| NC_000019.8:g.12858908G= | NCBI36 |
| NG_009292.1:g.935G= | |
| NG_013087.1:g.5110C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.47C= MANE Select | ENSP00000264834.3:p.Ala16= | |
| ENST00000264834.4:c.47C= | ENSP00000264834.3:p.Ala16= | |
| NM_006563.3:c.47C= | NP_006554.1:p.Ala16= | |
| XM_011527642.1:c.-157C= | XP_011525944.1:n.-157C= | |
| NM_006563.4:c.47C= | NP_006554.1:p.Ala16= | |
| XM_011527642.2:c.-157C= | XP_011525944.1:n.-157C= | |
| NM_006563.5:c.47C= MANE Select | NP_006554.1:p.Ala16= |