Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28506388T>G , CM000678.2:g.28506388T>G | GRCh38 |
| NC_000016.9:g.28517709T>G , CM000678.1:g.28517709T>G | GRCh37 |
| NC_000016.8:g.28425210T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145659.3:c.31+393A>C MANE Select | NP_663634.2:n.31+393A>C |
| ENST00000356897.1:c.31+393A>C MANE Select | ENSP00000349365.1:n.31+393A>C |
| ENST00000568075.1:c.-362-2338A>C | ENSP00000455990.1:n.-362-2338A>C |
| XM_011545780.1:c.38-2338A>C | XP_011544082.1:n.38-2338A>C |
| XM_011545780.2:c.38-2338A>C | XP_011544082.1:n.38-2338A>C |