Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99850416G>C , CM000663.2:g.99850416G>C | GRCh38 |
| NC_000001.10:g.100315972G>C , CM000663.1:g.100315972G>C | GRCh37 |
| NC_000001.9:g.100088560G>C | NCBI36 |
| NG_012865.1:g.5333G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.-69+1G>C MANE Select | ENSP00000355106.3:n.-69+1G>C | |
| ENST00000361915.7:c.-69+1G>C | ENSP00000355106.3:n.-69+1G>C | |
| NM_000642.2:c.-69+1G>C | NP_000633.2:n.-69+1G>C | |
| XM_005270557.1:c.-69+315G>C | XP_005270614.1:n.-69+315G>C | |
| XM_005270557.2:c.-69+315G>C | XP_005270614.1:n.-69+315G>C | |
| NM_000642.3:c.-69+1G>C MANE Select | NP_000633.2:n.-69+1G>C |