Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225485T>G , CM000668.2:g.3225485T>G | GRCh38 |
| NC_000006.11:g.3225719T>G , CM000668.1:g.3225719T>G | GRCh37 |
| NC_000006.10:g.3170718T>G | NCBI36 |
| NG_016715.1:g.7250A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.604A>C MANE Select | ENSP00000259818.6:p.Ile202Leu | |
| ENST00000680070.1:n.1534A>C | ||
| ENST00000681707.1:n.1431A>C | ||
| ENST00000681757.1:n.909A>C | ||
| ENST00000259818.7:c.604A>C | ENSP00000259818.6:p.Ile202Leu | |
| ENST00000473006.1:n.721A>C | ||
| NM_178012.4:c.604A>C | NP_821080.1:p.Ile202Leu | |
| XM_011514571.1:c.388A>C | XP_011512873.1:p.Ile130Leu | |
| NM_178012.5:c.604A>C MANE Select | NP_821080.1:p.Ile202Leu |