Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869323A>G , CM000664.2:g.240869323A>G | GRCh38 |
| NC_000002.11:g.241808740A>G , CM000664.1:g.241808740A>G | GRCh37 |
| NC_000002.10:g.241457413A>G | NCBI36 |
| NG_008005.1:g.5579A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.319A>G MANE Select | ENSP00000302620.3:p.Ile107Val | |
| ENST00000307503.3:c.319A>G | ENSP00000302620.3:p.Ile107Val | |
| ENST00000472436.1:n.339A>G | ||
| NM_000030.2:c.319A>G | NP_000021.1:p.Ile107Val | |
| XR_924060.1:n.405+910T>C | ||
| NM_000030.3:c.319A>G MANE Select | NP_000021.1:p.Ile107Val |