Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64190157T>C , CM000685.2:g.64190157T>C | GRCh38 |
| NC_000023.10:g.63410037T>C , CM000685.1:g.63410037T>C | GRCh37 |
| NC_000023.9:g.63326762T>C | NCBI36 |
| NG_021345.1:g.20588A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152424.4:c.3130A>G MANE Select | NP_689637.3:p.Met1044Val |
| ENST00000374869.8:c.3130A>G MANE Select | ENSP00000364003.4:p.Met1044Val |
| NM_152424.3:c.3130A>G | NP_689637.3:p.Met1044Val |
| ENST00000330258.3:c.3130A>G | ENSP00000329117.3:p.Met1044Val |
| ENST00000374869.7:c.2357+773A>G | ENSP00000364003.3:n.2357+773A>G |
| XM_011530858.1:c.3130A>G | XP_011529160.1:p.Met1044Val |