Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39207146T>A , CM000668.2:g.39207146T>A | GRCh38 |
| NC_000006.11:g.39174922T>A , CM000668.1:g.39174922T>A | GRCh37 |
| NC_000006.10:g.39282900T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003740.4:c.187-11159A>T MANE Select | NP_003731.1:n.187-11159A>T |
| ENST00000359534.4:c.187-11159A>T MANE Select | ENSP00000352527.3:n.187-11159A>T |
| NM_003740.3:c.187-11159A>T | NP_003731.1:n.187-11159A>T |
| ENST00000359534.3:c.187-11159A>T | ENSP00000352527.3:n.187-11159A>T |
| XM_005249456.1:c.187-11159A>T | XP_005249513.1:n.187-11159A>T |