Linked Data
MyVariant Identifiers:
chr17:g.39780426C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624174C>A , CM000679.2:g.41624174C>A | GRCh38 |
| NC_000017.10:g.39780426C>A , CM000679.1:g.39780426C>A | GRCh37 |
| NC_000017.9:g.37033952C>A | NCBI36 |
| NG_008625.1:g.5457G>T | |
| NG_009090.2:g.167539G>T , LRG_401:g.167539G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.336G>T MANE Select | ENSP00000308452.8:p.Leu112= | |
| ENST00000311208.12:c.336G>T | ENSP00000308452.8:p.Leu112= | |
| ENST00000463128.5:c.-280G>T | ENSP00000468672.1:n.-280G>T | |
| ENST00000491673.1:n.402G>T | ||
| ENST00000493253.5:n.123G>T | ||
| ENST00000540235.5:c.87G>T | ENSP00000441751.2:p.Leu29= | |
| ENST00000577817.3:c.291G>T | ENSP00000467418.1:p.Leu97= | |
| NM_000422.2:c.336G>T | NP_000413.1:p.Leu112= | |
| NM_000422.3:c.336G>T MANE Select | NP_000413.1:p.Leu112= |