Linked Data
MyVariant Identifiers:
chr6:g.3225564C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225330C>G , CM000668.2:g.3225330C>G | GRCh38 |
| NC_000006.11:g.3225564C>G , CM000668.1:g.3225564C>G | GRCh37 |
| NC_000006.10:g.3170563C>G | NCBI36 |
| NG_016715.1:g.7405G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.759G>C MANE Select | ENSP00000259818.6:p.Leu253= | |
| ENST00000680070.1:n.1689G>C | ||
| ENST00000681707.1:n.1586G>C | ||
| ENST00000681757.1:n.1064G>C | ||
| ENST00000259818.7:c.759G>C | ENSP00000259818.6:p.Leu253= | |
| ENST00000473006.1:n.876G>C | ||
| NM_178012.4:c.759G>C | NP_821080.1:p.Leu253= | |
| XM_011514571.1:c.543G>C | XP_011512873.1:p.Leu181= | |
| NM_178012.5:c.759G>C MANE Select | NP_821080.1:p.Leu253= |