Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122120G>C , CM000663.2:g.193122120G>C | GRCh38 |
| NC_000001.10:g.193091250G>C , CM000663.1:g.193091250G>C | GRCh37 |
| NC_000001.9:g.191357873G>C | NCBI36 |
| NG_012691.1:g.5163G>C , LRG_507:g.5163G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.-81G>C MANE Select | ENSP00000356405.4:n.-81G>C | |
| ENST00000643006.1:c.-81G>C | ENSP00000496633.1:n.-81G>C | |
| ENST00000649895.1:n.138G>C | ||
| ENST00000650197.1:c.-81G>C | ENSP00000496929.1:n.-81G>C | |
| ENST00000367435.3:c.-81G>C | ENSP00000356405.3:n.-81G>C | |
| NM_024529.4:c.-81G>C , LRG_507t1:c.-81G>C | NP_078805.3:n.-81G>C | |
| XM_006711537.2:c.-81G>C | XP_006711600.1:n.-81G>C | |
| XM_006711537.4:c.-81G>C | XP_006711600.1:n.-81G>C | |
| XR_001738350.1:n.1537C>G | ||
| NM_024529.5:c.-81G>C MANE Select | NP_078805.3:n.-81G>C |