Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153971810A>G , CM000685.2:g.153971810A>G | GRCh38 |
| NC_000023.10:g.153237261A>G , CM000685.1:g.153237261A>G | GRCh37 |
| NC_000023.9:g.152890455A>G | NCBI36 |
| NG_012513.1:g.4559T>C | |
| NG_021222.1:g.4271A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310441.12:c.-970T>C MANE Select | ENSP00000309555.7:n.-970T>C | |
| XM_006724815.1:c.-970T>C | XP_006724878.1:n.-970T>C | |
| XM_006724816.1:c.-970T>C | XP_006724879.1:n.-970T>C | |
| XM_011531144.1:c.-970T>C | XP_011529446.1:n.-970T>C | |
| XM_011531145.1:c.-970T>C | XP_011529447.1:n.-970T>C | |
| XM_011531146.1:c.-970T>C | XP_011529448.1:n.-970T>C | |
| XM_011531147.1:c.-970T>C | XP_011529449.1:n.-970T>C | |
| XM_011531148.1:c.-970T>C | XP_011529450.1:n.-970T>C | |
| XM_011531149.1:c.-970T>C | XP_011529451.1:n.-970T>C | |
| XM_006724815.3:c.-970T>C | XP_006724878.1:n.-970T>C | |
| XM_006724816.3:c.-970T>C | XP_006724879.1:n.-970T>C | |
| XM_011531147.3:c.-970T>C | XP_011529449.1:n.-970T>C | |
| XM_011531148.3:c.-970T>C | XP_011529450.1:n.-970T>C | |
| XM_017029471.2:c.-970T>C | XP_016884960.1:n.-970T>C | |
| NM_005334.3:c.-970T>C MANE Select | NP_005325.2:n.-970T>C |