Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714061A>G , CM000681.2:g.6714061A>G | GRCh38 |
| NC_000019.9:g.6714072A>G , CM000681.1:g.6714072A>G | GRCh37 |
| NC_000019.8:g.6665072A>G | NCBI36 |
| NG_009557.1:g.11591T>C , LRG_27:g.11591T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.581T>C | ENSP00000512083.1:p.Ile194Thr | |
| ENST00000245907.11:c.704T>C MANE Select | ENSP00000245907.4:p.Ile235Thr | |
| ENST00000245907.10:c.704T>C | ENSP00000245907.4:p.Ile235Thr | |
| ENST00000595577.1:n.208T>C | ||
| NM_000064.3:c.704T>C | NP_000055.2:p.Ile235Thr | |
| NM_000064.4:c.704T>C MANE Select | NP_000055.2:p.Ile235Thr |