Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44335718T>G , CM000667.2:g.44335718T>G | GRCh38 |
| NC_000005.9:g.44335820T>G , CM000667.1:g.44335820T>G | GRCh37 |
| NC_000005.8:g.44371577T>G | NCBI36 |
| NG_011446.1:g.57965A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264664.5:c.326-25188A>C MANE Select | ENSP00000264664.4:n.326-25188A>C | |
| ENST00000264664.4:c.326-25188A>C | ENSP00000264664.4:n.326-25188A>C | |
| NM_004465.1:c.326-25188A>C | NP_004456.1:n.326-25188A>C | |
| XM_005248264.2:c.326-25188A>C | XP_005248321.1:n.326-25188A>C | |
| XM_005248264.4:c.326-25188A>C | XP_005248321.1:n.326-25188A>C | |
| NM_004465.2:c.326-25188A>C MANE Select | NP_004456.1:n.326-25188A>C |