Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57211019A>C , CM000674.2:g.57211019A>C | GRCh38 |
| NC_000012.11:g.57604802A>C , CM000674.1:g.57604802A>C | GRCh37 |
| NC_000012.10:g.55891069A>C | NCBI36 |
| NG_016444.1:g.87521A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002332.3:c.12916+140A>C MANE Select | NP_002323.2:n.12916+140A>C |
| ENST00000243077.8:c.12916+140A>C MANE Select | ENSP00000243077.3:n.12916+140A>C |
| NM_002332.2:c.12916+140A>C | NP_002323.2:n.12916+140A>C |
| ENST00000243077.7:c.12916+140A>C | ENSP00000243077.3:n.12916+140A>C |
| ENST00000556356.1:n.3610+140A>C | |
| XM_017019303.1:c.12967+140A>C | XP_016874792.1:n.12967+140A>C |