Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84441393T>C , CM000664.2:g.84441393T>C | GRCh38 |
| NC_000002.11:g.84668517T>C , CM000664.1:g.84668517T>C | GRCh37 |
| NC_000002.10:g.84522028T>C | NCBI36 |
| NG_016755.1:g.23070A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003849.4:c.385A>G MANE Select | NP_003840.2:p.Ile129Val |
| ENST00000393868.7:c.385A>G MANE Select | ENSP00000377446.2:p.Ile129Val |
| NM_003849.3:c.385A>G | NP_003840.2:p.Ile129Val |
| ENST00000393868.6:c.385A>G | ENSP00000377446.2:p.Ile129Val |
| ENST00000430989.1:n.425A>G | |
| ENST00000442240.5:c.396A>G | |
| ENST00000483605.5:n.464A>G | |
| ENST00000491642.5:n.557A>G | |
| ENST00000651342.1:c.385A>G | ENSP00000498471.1:p.Ile129Val |