Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80787564G>A , CM000667.2:g.80787564G>A | GRCh38 |
| NC_000005.9:g.80083383G>A , CM000667.1:g.80083383G>A | GRCh37 |
| NC_000005.8:g.80119139G>A | NCBI36 |
| NG_016607.1:g.138090G>A | |
| NG_016607.2:g.138090G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.2436-1G>A MANE Select | NP_002430.3:n.2436-1G>A |
| ENST00000265081.7:c.2436-1G>A MANE Select | ENSP00000265081.6:n.2436-1G>A |
| NM_002439.4:c.2436-1G>A | NP_002430.3:n.2436-1G>A |
| ENST00000265081.6:c.2436-1G>A | ENSP00000265081.6:n.2436-1G>A |
| ENST00000658259.1:c.2268-1G>A | ENSP00000499617.1:n.2268-1G>A |
| ENST00000667069.1:c.2241-1G>A | ENSP00000499502.1:n.2241-1G>A |
| ENST00000670357.1:c.2436-1G>A | ENSP00000499791.1:n.2436-1G>A |