Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30234878T>C , CM000679.2:g.30234878T>C | GRCh38 |
| NC_000017.10:g.28561896T>C , CM000679.1:g.28561896T>C | GRCh37 |
| NC_000017.9:g.25586022T>C | NCBI36 |
| NG_011747.2:g.6059A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.-221+735A>G MANE Select | ENSP00000498537.1:n.-221+735A>G | |
| ENST00000261707.7:c.-221+735A>G | ENSP00000261707.3:n.-221+735A>G | |
| ENST00000394821.2:c.-221+735A>G | ENSP00000378298.2:n.-221+735A>G | |
| ENST00000401766.6:c.-124+735A>G | ENSP00000385822.2:n.-124+735A>G | |
| NM_001045.5:c.-221+735A>G | NP_001036.1:n.-221+735A>G | |
| NM_001045.6:c.-221+735A>G MANE Select | NP_001036.1:n.-221+735A>G |