Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95318573C>T , CM000669.2:g.95318573C>T | GRCh38 |
| NC_000007.13:g.94947885C>T , CM000669.1:g.94947885C>T | GRCh37 |
| NC_000007.12:g.94785821C>T | NCBI36 |
| NG_008779.1:g.11000G>A | |
| NG_008779.2:g.11134G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.75-180G>A MANE Select | ENSP00000222381.3:n.75-180G>A | |
| ENST00000222381.7:c.75-180G>A | ENSP00000222381.3:n.75-180G>A | |
| ENST00000433729.1:c.75-180G>A | ENSP00000407359.1:n.75-180G>A | |
| ENST00000470502.1:n.15G>A | ||
| NM_000446.5:c.75-180G>A | NP_000437.3:n.75-180G>A | |
| NM_000446.6:c.75-180G>A | NP_000437.3:n.75-180G>A | |
| NM_000446.7:c.75-180G>A MANE Select | NP_000437.3:n.75-180G>A |