Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27597925T>G , CM000670.2:g.27597925T>G | GRCh38 |
| NC_000008.10:g.27455442T>G , CM000670.1:g.27455442T>G | GRCh37 |
| NC_000008.9:g.27511359T>G | NCBI36 |
| NG_027845.1:g.21886A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001831.4:c.*316A>C MANE Select | NP_001822.3:n.*316A>C |
| ENST00000316403.15:c.*316A>C MANE Select | ENSP00000315130.10:n.*316A>C |
| NM_001831.3:c.*316A>C | NP_001822.3:n.*316A>C |
| NR_038335.1:n.1987A>C | |
| NR_038335.2:n.1921A>C | |
| NR_045494.1:n.1846A>C | |
| ENST00000316403.14:c.*316A>C | ENSP00000315130.10:n.*316A>C |
| ENST00000405140.7:c.*316A>C | ENSP00000385419.3:n.*316A>C |
| XR_949609.1:n.4048T>G | |
| XR_949610.1:n.3361T>G | |
| XR_949611.1:n.4007T>G |