Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100045679A>G , CM000672.2:g.100045679A>G | GRCh38 |
| NC_000010.10:g.101805436A>G , CM000672.1:g.101805436A>G | GRCh37 |
| NC_000010.9:g.101795426A>G | NCBI36 |
| NG_012060.1:g.41207T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370418.8:c.1230+3079T>C MANE Select | ENSP00000359446.3:n.1230+3079T>C | |
| ENST00000370418.7:c.1230+3079T>C | ENSP00000359446.3:n.1230+3079T>C | |
| NM_001308.2:c.1230+3079T>C | NP_001299.1:n.1230+3079T>C | |
| XM_011539299.1:c.1272+3079T>C | XP_011537601.1:n.1272+3079T>C | |
| NM_001308.3:c.1230+3079T>C MANE Select | NP_001299.1:n.1230+3079T>C |