Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15162451G>C , CM000681.2:g.15162451G>C | GRCh38 |
| NC_000019.9:g.15273262G>C , CM000681.1:g.15273262G>C | GRCh37 |
| NC_000019.8:g.15134262G>C | NCBI36 |
| NG_009819.1:g.43531C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.5913+14C>G MANE Select | ENSP00000263388.1:n.5913+14C>G | |
| ENST00000263388.6:c.5913+14C>G | ENSP00000263388.1:n.5913+14C>G | |
| ENST00000595514.1:c.474+14C>G | ||
| ENST00000597756.1:c.441C>G | ||
| NM_000435.2:c.5913+14C>G | NP_000426.2:n.5913+14C>G | |
| XM_005259924.3:c.5757+14C>G | XP_005259981.1:n.5757+14C>G | |
| XM_005259924.4:c.5757+14C>G | XP_005259981.1:n.5757+14C>G | |
| NM_000435.3:c.5913+14C>G MANE Select | NP_000426.2:n.5913+14C>G |