Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1439454A>G , CM000663.2:g.1439454A>G | GRCh38 |
| NC_000001.10:g.1374834A>G , CM000663.1:g.1374834A>G | GRCh37 |
| NC_000001.9:g.1364697A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022834.5:c.1005A>G MANE Select | NP_073745.2:p.Pro335= |
| ENST00000476993.2:c.1005A>G MANE Select | ENSP00000417185.1:p.Pro335= |
| NM_022834.4:c.1005A>G | NP_073745.2:p.Pro335= |
| NM_199121.2:c.*415A>G | NP_954572.2:n.*415A>G |
| NM_199121.3:c.*415A>G | NP_954572.2:n.*415A>G |
| ENST00000338660.5:c.*415A>G | ENSP00000423404.1:n.*415A>G |
| ENST00000476993.1:c.1005A>G | ENSP00000417185.1:p.Pro335= |