Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324647T>G , CM000669.2:g.95324647T>G | GRCh38 |
| NC_000007.13:g.94953959T>G , CM000669.1:g.94953959T>G | GRCh37 |
| NC_000007.12:g.94791895T>G | NCBI36 |
| NG_008779.1:g.4926A>C | |
| NG_008779.2:g.5060A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222381.7:c.-172A>C | ENSP00000222381.3:n.-172A>C | |
| NM_000446.6:c.-172A>C | NP_000437.3:n.-172A>C |