Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.[215675463T>C;216084853C>T] , CM000663.2:g.[215675463T>C;216084853C>T] | GRCh38 |
| NC_000001.10:g.[215848805T>C;216258195C>T] , CM000663.1:g.[215848805T>C;216258195C>T] | GRCh37 |
| NC_000001.9:g.[213915428T>C;214324818C>T] | NCBI36 |
| NG_009497.1:g.[343544G>A;752934A>G] | |
| NG_009497.2:g.[343596G>A;752986A>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.[5012G>A;12448A>G] MANE Select | ENSP00000305941.3:p.[Gly1671Asp;Thr4150Ala] | |
| ENST00000674083.1:c.[5012G>A;12448A>G] | ENSP00000501296.1:p.[Gly1671Asp;Thr4150Ala] | |
| ENST00000307340.7:c.[5012G>A;12448A>G] | ENSP00000305941.3:p.[Gly1671Asp;Thr4150Ala] | |
| NM_206933.2:c.[5012G>A;12448A>G] | NP_996816.2:p.[Gly1671Asp;Thr4150Ala] | |
| NM_206933.3:c.[5012G>A;12448A>G] | NP_996816.2:p.[Gly1671Asp;Thr4150Ala] | |
| NM_206933.4:c.[5012G>A;12448A>G] MANE Select | NP_996816.3:p.[Gly1671Asp;Thr4150Ala] |