Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152806058A>G , CM000663.2:g.152806058A>G | GRCh38 |
| NC_000001.10:g.152778534A>G , CM000663.1:g.152778534A>G | GRCh37 |
| NC_000001.9:g.151045158A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607093.2:c.-21+543T>C MANE Select | ENSP00000475270.1:n.-21+543T>C | |
| ENST00000606576.1:c.-21+543T>C | ENSP00000476034.1:n.-21+543T>C | |
| NM_001276331.1:c.-21+543T>C | NP_001263260.1:n.-21+543T>C | |
| NM_178351.3:c.-21+543T>C | NP_848128.1:n.-21+543T>C | |
| NM_001276331.2:c.-21+543T>C | NP_001263260.1:n.-21+543T>C | |
| NM_178351.4:c.-21+543T>C MANE Select | NP_848128.1:n.-21+543T>C |