Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55112903C>T , CM000666.2:g.55112903C>T | GRCh38 |
| NC_000004.11:g.55979070C>T , CM000666.1:g.55979070C>T | GRCh37 |
| NC_000004.10:g.55673827C>T | NCBI36 |
| NG_012004.1:g.17693G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002253.4:c.976+401G>A MANE Select | NP_002244.1:n.976+401G>A |
| ENST00000263923.5:c.976+401G>A MANE Select | ENSP00000263923.4:n.976+401G>A |
| NM_002253.2:c.976+401G>A | NP_002244.1:n.976+401G>A |
| NM_002253.3:c.976+401G>A | NP_002244.1:n.976+401G>A |
| ENST00000263923.4:c.976+401G>A | ENSP00000263923.4:n.976+401G>A |
| ENST00000512566.1:n.976+401G>A | |
| ENST00000647068.1:n.989+401G>A |