Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151010400C>A , CM000669.2:g.151010400C>A | GRCh38 |
| NC_000007.13:g.150707488C>A , CM000669.1:g.150707488C>A | GRCh37 |
| NC_000007.12:g.150338421C>A | NCBI36 |
| NG_011992.1:g.24342C>A | |
| NG_030317.1:g.19100G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000603.5:c.2685+113C>A MANE Select | NP_000594.2:n.2685+113C>A |
| ENST00000297494.8:c.2685+113C>A MANE Select | ENSP00000297494.3:n.2685+113C>A |
| NM_000603.4:c.2685+113C>A | NP_000594.2:n.2685+113C>A |
| ENST00000297494.7:c.2685+113C>A | ENSP00000297494.3:n.2685+113C>A |
| ENST00000461406.5:c.2067+113C>A | ENSP00000417143.1:n.2067+113C>A |
| ENST00000475017.1:c.566+113C>A |