Linked Data
MyVariant Identifiers:
chr17:g.56350884G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273523G>C , CM000679.2:g.58273523G>C | GRCh38 |
| NC_000017.10:g.56350884G>C , CM000679.1:g.56350884G>C | GRCh37 |
| NC_000017.9:g.53705883G>C | NCBI36 |
| NG_009629.1:g.12413C>G , LRG_84:g.12413C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.845C>G | ||
| ENST00000699291.1:c.637C>G | ENSP00000514272.1:n.637C>G | |
| ENST00000699292.1:n.552C>G | ||
| ENST00000225275.4:c.1512C>G MANE Select | ENSP00000225275.3:p.Leu504= | |
| ENST00000225275.3:c.1512C>G | ENSP00000225275.3:p.Leu504= | |
| NM_000250.1:c.1512C>G , LRG_84t1:c.1512C>G | NP_000241.1:p.Leu504= | |
| XM_011524821.1:c.1698C>G | XP_011523123.1:p.Leu566= | |
| XM_011524822.1:c.1227C>G | XP_011523124.1:p.Leu409= | |
| XM_011524823.1:c.*61C>G | XP_011523125.1:n.*61C>G | |
| NM_000250.2:c.1512C>G MANE Select | NP_000241.1:p.Leu504= |