Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8072836T>A , CM000679.2:g.8072836T>A | GRCh38 |
| NC_000017.10:g.7976154T>A , CM000679.1:g.7976154T>A | GRCh37 |
| NC_000017.9:g.7916879T>A | NCBI36 |
| NG_007099.1:g.19868A>T | |
| NG_007099.2:g.19881A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.2041A>T MANE Select | NP_001130.1:p.Lys681Ter |
| ENST00000647874.1:c.2041A>T MANE Select | ENSP00000497784.1:p.Lys681Ter |
| NM_001139.2:c.2041A>T | NP_001130.1:p.Lys681Ter |
| ENST00000319144.4:c.2041A>T | ENSP00000315167.4:p.Lys681Ter |
| ENST00000649809.1:c.1105A>T | ENSP00000496845.1:p.Lys369Ter |
| ENST00000650441.1:n.464A>T |