Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475154C>G , CM000684.2:g.32475154C>G | GRCh38 |
| NC_000022.10:g.32871141C>G , CM000684.1:g.32871141C>G | GRCh37 |
| NC_000022.9:g.31201141C>G | NCBI36 |
| NG_016001.1:g.5435C>G | |
| NG_016001.2:g.5435C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.122+30C>G MANE Select | ENSP00000266087.7:n.122+30C>G | |
| ENST00000266087.11:c.122+30C>G | ENSP00000266087.7:n.122+30C>G | |
| ENST00000420700.5:c.122+30C>G | ENSP00000406155.1:n.122+30C>G | |
| ENST00000425028.5:c.122+30C>G | ENSP00000395823.1:n.122+30C>G | |
| ENST00000492535.1:n.110+30C>G | ||
| NM_012179.3:c.122+30C>G | NP_036311.3:n.122+30C>G | |
| XM_011530106.1:c.-52+30C>G | XP_011528408.1:n.-52+30C>G | |
| XM_024452207.1:c.-69+30C>G | XP_024307975.1:n.-69+30C>G | |
| NM_012179.4:c.122+30C>G MANE Select | NP_036311.3:n.122+30C>G |