Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47485642G>C , CM000668.2:g.47485642G>C | GRCh38 |
| NC_000006.11:g.47453378G>C , CM000668.1:g.47453378G>C | GRCh37 |
| NC_000006.10:g.47561337G>C | NCBI36 |
| NG_008878.1:g.12854G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012120.3:c.4+7394G>C MANE Select | NP_036252.1:n.4+7394G>C |
| ENST00000359314.5:c.4+7394G>C MANE Select | ENSP00000352264.5:n.4+7394G>C |
| NM_012120.2:c.4+7394G>C | NP_036252.1:n.4+7394G>C |
| XM_005248976.1:c.4+7394G>C | XP_005249033.1:n.4+7394G>C |
| XM_005248977.2:c.4+7394G>C | XP_005249034.1:n.4+7394G>C |
| XM_017010641.1:c.4+7394G>C | XP_016866130.1:n.4+7394G>C |