Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324349T>G , CM000669.2:g.95324349T>G | GRCh38 |
| NC_000007.13:g.94953661T>G , CM000669.1:g.94953661T>G | GRCh37 |
| NC_000007.12:g.94791597T>G | NCBI36 |
| NG_008779.1:g.5224A>C | |
| NG_008779.2:g.5358A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.74+53A>C MANE Select | ENSP00000222381.3:n.74+53A>C | |
| ENST00000222381.7:c.74+53A>C | ENSP00000222381.3:n.74+53A>C | |
| ENST00000433729.1:c.74+53A>C | ENSP00000407359.1:n.74+53A>C | |
| NM_000446.5:c.74+53A>C | NP_000437.3:n.74+53A>C | |
| NM_000446.6:c.74+53A>C | NP_000437.3:n.74+53A>C | |
| NM_000446.7:c.74+53A>C MANE Select | NP_000437.3:n.74+53A>C |