Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179130005C>G , CM000667.2:g.179130005C>G | GRCh38 |
| NC_000005.9:g.178557006C>G , CM000667.1:g.178557006C>G | GRCh37 |
| NC_000005.8:g.178489612C>G | NCBI36 |
| NG_023212.2:g.220324G>C | |
| NG_023212.3:g.220324G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014244.5:c.2384G>C MANE Select | NP_055059.2:p.Trp795Ser |
| ENST00000251582.12:c.2384G>C MANE Select | ENSP00000251582.7:p.Trp795Ser |
| NM_014244.4:c.2384G>C | NP_055059.2:p.Trp795Ser |
| ENST00000251582.11:c.2384G>C | ENSP00000251582.7:p.Trp795Ser |
| ENST00000518335.3:c.2384G>C | ENSP00000489888.2:p.Trp795Ser |
| ENST00000698889.1:c.2384G>C | ENSP00000514008.1:p.Trp795Ser |