Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32589436G>C , CM000668.2:g.32589436G>C | GRCh38 |
| NC_000006.11:g.32557213G>C , CM000668.1:g.32557213G>C | GRCh37 |
| NC_000006.10:g.32665191G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002124.4:c.100+207C>G MANE Select | NP_002115.2:n.100+207C>G |
| ENST00000360004.6:c.100+207C>G MANE Select | ENSP00000353099.5:n.100+207C>G |
| NM_002124.3:c.100+207C>G | NP_002115.2:n.100+207C>G |
| ENST00000360004.5:c.100+207C>G | ENSP00000353099.5:n.100+207C>G |
| ENST00000611060.4:c.100+207C>G | ENSP00000480667.1:n.100+207C>G |
| ENST00000696610.1:c.100+207C>G | ENSP00000512754.1:n.100+207C>G |
| ENST00000696612.1:n.163+207C>G |