Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668205G>C , CM000670.2:g.86668205G>C | GRCh38 |
| NC_000008.10:g.87680433G>C , CM000670.1:g.87680433G>C | GRCh37 |
| NC_000008.9:g.87749549G>C | NCBI36 |
| NG_016980.1:g.80471C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.494-37C>G MANE Select | ENSP00000316605.5:n.494-37C>G | |
| ENST00000680314.1:n.255-37C>G | ||
| ENST00000681746.1:c.494-37C>G | ENSP00000505959.1:n.494-37C>G | |
| ENST00000320005.5:c.494-37C>G | ENSP00000316605.5:n.494-37C>G | |
| NM_019098.4:c.494-37C>G | NP_061971.3:n.494-37C>G | |
| XM_011517138.1:c.80-37C>G | XP_011515440.1:n.80-37C>G | |
| XM_011517138.2:c.80-37C>G | XP_011515440.1:n.80-37C>G | |
| NM_019098.5:c.494-37C>G MANE Select | NP_061971.3:n.494-37C>G |