Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151468210G>A , CM000668.2:g.151468210G>A | GRCh38 |
| NC_000006.11:g.151789345G>A , CM000668.1:g.151789345G>A | GRCh37 |
| NC_000006.10:g.151831038G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367294.4:c.559-133G>A MANE Select | ENSP00000356263.3:n.559-133G>A | |
| ENST00000367294.3:c.559-133G>A | ENSP00000356263.3:n.559-133G>A | |
| ENST00000494826.1:c.*282-133G>A | ENSP00000435882.1:n.*282-133G>A | |
| ENST00000545879.5:c.202-133G>A | ENSP00000444121.1:n.202-133G>A | |
| NM_001286562.1:c.202-133G>A | NP_001273491.1:n.202-133G>A | |
| NM_024573.2:c.559-133G>A | NP_078849.1:n.559-133G>A | |
| NM_024573.3:c.559-133G>A MANE Select | NP_078849.1:n.559-133G>A | |
| NM_001286562.2:c.202-133G>A | NP_001273491.1:n.202-133G>A |