Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659198T>G , CM000685.2:g.136659198T>G | GRCh38 |
| NC_000023.10:g.135741357T>G , CM000685.1:g.135741357T>G | GRCh37 |
| NC_000023.9:g.135569023T>G | NCBI36 |
| NG_007280.1:g.16022T>G , LRG_141:g.16022T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*187T>G | ENSP00000512122.1:n.*187T>G | |
| ENST00000695725.1:c.*124T>G | ENSP00000512123.1:n.*124T>G | |
| ENST00000695726.1:n.2537T>G | ||
| ENST00000695729.1:n.3372T>G | ||
| ENST00000370629.7:c.569T>G MANE Select | ENSP00000359663.2:p.Ile190Arg | |
| ENST00000370628.2:c.506T>G | ENSP00000359662.2:p.Ile169Arg | |
| ENST00000370629.6:c.569T>G | ENSP00000359663.2:p.Ile190Arg | |
| NM_000074.2:c.569T>G , LRG_141t1:c.569T>G | NP_000065.1:p.Ile190Arg | |
| NM_000074.3:c.569T>G MANE Select | NP_000065.1:p.Ile190Arg |