Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186544252G>T , CM000665.2:g.186544252G>T | GRCh38 |
| NC_000003.11:g.186262041G>T , CM000665.1:g.186262041G>T | GRCh37 |
| NC_000003.10:g.187744735G>T | NCBI36 |
| NG_009829.1:g.5127C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017541.4:c.21+54C>A MANE Select | NP_060011.1:n.21+54C>A |
| ENST00000307944.6:c.21+54C>A MANE Select | ENSP00000312099.5:n.21+54C>A |
| NM_017541.2:c.21+54C>A | NP_060011.1:n.21+54C>A |
| NM_017541.3:c.21+54C>A | NP_060011.1:n.21+54C>A |
| ENST00000307944.5:c.21+54C>A | ENSP00000312099.5:n.21+54C>A |
| ENST00000392499.6:c.21+54C>A | ENSP00000376287.2:n.21+54C>A |