Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95263667A>G , CM000670.2:g.95263667A>G | GRCh38 |
| NC_000008.10:g.96275895A>G , CM000670.1:g.96275895A>G | GRCh37 |
| NC_000008.9:g.96345071A>G | NCBI36 |
| NG_032804.1:g.10568T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_177965.4:c.243+20T>C MANE Select | NP_808880.1:n.243+20T>C |
| ENST00000286688.6:c.243+20T>C MANE Select | ENSP00000286688.5:n.243+20T>C |
| NM_001363260.1:c.243+20T>C | NP_001350189.1:n.243+20T>C |
| NM_177965.3:c.243+20T>C | NP_808880.1:n.243+20T>C |
| ENST00000286688.5:c.243+20T>C | ENSP00000286688.5:n.243+20T>C |
| XM_005250799.2:c.582+20T>C | XP_005250856.2:n.582+20T>C |