Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624262C>G , CM000679.2:g.41624262C>G | GRCh38 |
| NC_000017.10:g.39780514C>G , CM000679.1:g.39780514C>G | GRCh37 |
| NC_000017.9:g.37034040C>G | NCBI36 |
| NG_008625.1:g.5369G>C | |
| NG_009090.2:g.167451G>C , LRG_401:g.167451G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.248G>C MANE Select | ENSP00000308452.8:p.Gly83Ala | |
| ENST00000311208.12:c.248G>C | ENSP00000308452.8:p.Gly83Ala | |
| ENST00000463128.5:c.-312-56G>C | ENSP00000468672.1:n.-312-56G>C | |
| ENST00000491673.1:n.314G>C | ||
| ENST00000493253.5:n.35G>C | ||
| ENST00000540235.5:c.43G>C | ENSP00000441751.2:p.Val15Leu | |
| ENST00000577817.3:c.203G>C | ENSP00000467418.1:p.Gly68Ala | |
| NM_000422.2:c.248G>C | NP_000413.1:p.Gly83Ala | |
| NM_000422.3:c.248G>C MANE Select | NP_000413.1:p.Gly83Ala |