Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99949649G>A , CM000666.2:g.99949649G>A | GRCh38 |
| NC_000004.11:g.100870806G>A , CM000666.1:g.100870806G>A | GRCh37 |
| NC_000004.10:g.101089829G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296417.6:c.81+14C>T MANE Select | ENSP00000296417.5:n.81+14C>T | |
| ENST00000651623.1:c.81+14C>T | ENSP00000498935.1:n.81+14C>T | |
| ENST00000296417.5:c.81+14C>T | ENSP00000296417.5:n.81+14C>T | |
| ENST00000511203.1:n.651C>T | ||
| ENST00000511319.5:n.606+14C>T | ||
| ENST00000511348.1:n.280C>T | ||
| ENST00000527366.1:n.165+14C>T | ||
| ENST00000529158.5:n.130+14C>T | ||
| NM_002106.3:c.81+14C>T | NP_002097.1:n.81+14C>T | |
| NM_002106.4:c.81+14C>T MANE Select | NP_002097.1:n.81+14C>T |