Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21788350T>C , CM000684.2:g.21788350T>C | GRCh38 |
| NC_000022.10:g.22142639T>C , CM000684.1:g.22142639T>C | GRCh37 |
| NC_000022.9:g.20472639T>C | NCBI36 |
| NG_023054.2:g.84331A>G , LRG_786:g.84331A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002745.5:c.763A>G MANE Select | NP_002736.3:p.Ile255Val |
| ENST00000215832.11:c.763A>G MANE Select | ENSP00000215832.7:p.Ile255Val |
| NM_002745.4:c.763A>G , LRG_786t1:c.763A>G | NP_002736.3:p.Ile255Val |
| NM_138957.3:c.763A>G , LRG_786t2:c.763A>G | NP_620407.1:p.Ile255Val |
| ENST00000215832.10:c.763A>G | ENSP00000215832.6:p.Ile255Val |
| ENST00000398822.7:c.763A>G | ENSP00000381803.3:p.Ile255Val |
| ENST00000544786.1:c.724+344A>G | ENSP00000440842.1:n.724+344A>G |