Linked Data
MyVariant Identifiers:
chr17:g.39780408G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624156G>A , CM000679.2:g.41624156G>A | GRCh38 |
| NC_000017.10:g.39780408G>A , CM000679.1:g.39780408G>A | GRCh37 |
| NC_000017.9:g.37033934G>A | NCBI36 |
| NG_008625.1:g.5475C>T | |
| NG_009090.2:g.167557C>T , LRG_401:g.167557C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.354C>T MANE Select | ENSP00000308452.8:p.Asp118= | |
| ENST00000311208.12:c.354C>T | ENSP00000308452.8:p.Asp118= | |
| ENST00000463128.5:c.-262C>T | ENSP00000468672.1:n.-262C>T | |
| ENST00000491673.1:n.420C>T | ||
| ENST00000493253.5:n.141C>T | ||
| ENST00000540235.5:c.105C>T | ENSP00000441751.2:p.Asp35= | |
| ENST00000577817.3:c.309C>T | ENSP00000467418.1:p.Asp103= | |
| NM_000422.2:c.354C>T | NP_000413.1:p.Asp118= | |
| NM_000422.3:c.354C>T MANE Select | NP_000413.1:p.Asp118= |