Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10568460G>T , CM000681.2:g.10568460G>T | GRCh38 |
| NC_000019.9:g.10679136G>T , CM000681.1:g.10679136G>T | GRCh37 |
| NC_000019.8:g.10540136G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001800.4:c.141+53C>A MANE Select | NP_001791.1:n.141+53C>A |
| ENST00000393599.3:c.141+53C>A MANE Select | ENSP00000377224.1:n.141+53C>A |
| NM_001800.3:c.141+53C>A | NP_001791.1:n.141+53C>A |
| NM_079421.2:c.141+53C>A | NP_524145.1:n.141+53C>A |
| NM_079421.3:c.141+53C>A | NP_524145.1:n.141+53C>A |
| ENST00000335766.2:c.141+53C>A | ENSP00000337056.1:n.141+53C>A |
| ENST00000393599.2:c.141+53C>A | ENSP00000377224.1:n.141+53C>A |