Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.644634T>C , CM000685.2:g.644634T>C | GRCh38 |
| NC_000023.10:g.605369T>C , CM000685.1:g.605369T>C | GRCh37 |
| NC_000023.9:g.525369T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686671.1:c.877T>C MANE Select | ENSP00000508521.1:p.Ter293Arg | |
| ENST00000334060.8:c.633+3547T>C | ENSP00000335505.3:n.633+3547T>C | |
| ENST00000381575.6:c.633+3547T>C | ENSP00000370987.1:n.633+3547T>C | |
| ENST00000381578.6:c.877T>C | ENSP00000370990.1:p.Ter293Arg | |
| ENST00000554971.6:c.877T>C | ENSP00000452016.1:p.Ter293Arg |