Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38252912C>G , CM000677.2:g.38252912C>G | GRCh38 |
| NC_000015.9:g.38545113C>G , CM000677.1:g.38545113C>G | GRCh37 |
| NC_000015.8:g.36332405C>G | NCBI36 |
| NG_008980.1:g.5062C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.-274C>G MANE Select | ENSP00000299084.4:n.-274C>G | |
| ENST00000299084.8:c.-274C>G | ENSP00000299084.4:n.-274C>G | |
| ENST00000561205.1:n.65C>G | ||
| NM_152594.2:c.-274C>G | NP_689807.1:n.-274C>G | |
| XM_005254202.2:c.-274C>G | XP_005254259.1:n.-274C>G | |
| XM_005254203.3:c.-321C>G | XP_005254260.1:n.-321C>G | |
| XM_005254202.3:c.-274C>G | XP_005254259.1:n.-274C>G | |
| XR_001751484.1:n.87+655G>C | ||
| NM_152594.3:c.-274C>G MANE Select | NP_689807.1:n.-274C>G |