Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48970606G>T , CM000681.2:g.48970606G>T | GRCh38 |
| NC_000019.9:g.49473863G>T , CM000681.1:g.49473863G>T | GRCh37 |
| NC_000019.8:g.54165675G>T | NCBI36 |
| NG_012923.1:g.27748C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002103.5:c.1749C>A MANE Select | NP_002094.2:p.Ile583= |
| ENST00000323798.8:c.1749C>A MANE Select | ENSP00000317904.3:p.Ile583= |
| NM_001161587.1:c.1557C>A | NP_001155059.1:p.Ile519= |
| NM_001161587.2:c.1557C>A | NP_001155059.1:p.Ile519= |
| NM_002103.4:c.1749C>A | NP_002094.2:p.Ile583= |
| NR_027763.1:n.1808C>A | |
| NR_027763.2:n.1764C>A | |
| ENST00000263276.6:c.1557C>A | ENSP00000263276.6:p.Ile519= |
| ENST00000323798.7:c.1749C>A | ENSP00000317904.3:p.Ile583= |
| ENST00000594220.1:c.104C>A |