Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42184952G>C , CM000668.2:g.42184952G>C | GRCh38 |
| NC_000006.11:g.42152690G>C , CM000668.1:g.42152690G>C | GRCh37 |
| NC_000006.10:g.42260668G>C | NCBI36 |
| NG_016216.1:g.15005C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002098.6:c.476-10C>G MANE Select | NP_002089.4:n.476-10C>G |
| ENST00000230361.4:c.476-10C>G MANE Select | ENSP00000230361.3:n.476-10C>G |
| NM_002098.5:c.476-10C>G | NP_002089.4:n.476-10C>G |
| ENST00000230361.3:c.476-10C>G | ENSP00000230361.3:n.476-10C>G |
| XM_011514540.1:c.272-10C>G | XP_011512842.1:n.272-10C>G |