Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38253164A>C , CM000677.2:g.38253164A>C | GRCh38 |
| NC_000015.9:g.38545365A>C , CM000677.1:g.38545365A>C | GRCh37 |
| NC_000015.8:g.36332657A>C | NCBI36 |
| NG_008980.1:g.5314A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.-22A>C MANE Select | ENSP00000299084.4:n.-22A>C | |
| ENST00000299084.8:c.-22A>C | ENSP00000299084.4:n.-22A>C | |
| ENST00000561205.1:n.317A>C | ||
| NM_152594.2:c.-22A>C | NP_689807.1:n.-22A>C | |
| XM_005254202.2:c.-22A>C | XP_005254259.1:n.-22A>C | |
| XM_005254203.3:c.-69A>C | XP_005254260.1:n.-69A>C | |
| XM_005254202.3:c.-22A>C | XP_005254259.1:n.-22A>C | |
| XR_001751484.1:n.87+403T>G | ||
| NM_152594.3:c.-22A>C MANE Select | NP_689807.1:n.-22A>C |