Linked Data
dbSNP Id:
rs200102896
ExAC:
17:39780541 C / A
gnomAD v2:
17-39780541-C-A
gnomAD v3:
17-41624289-C-A
gnomAD v4:
17-41624289-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624289C>A , CM000679.2:g.41624289C>A | GRCh38 |
| NC_000017.10:g.39780541C>A , CM000679.1:g.39780541C>A | GRCh37 |
| NC_000017.9:g.37034067C>A | NCBI36 |
| NG_008625.1:g.5342G>T | |
| NG_009090.2:g.167424G>T , LRG_401:g.167424G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.221G>T MANE Select | ENSP00000308452.8:p.Gly74Val | |
| ENST00000311208.12:c.221G>T | ENSP00000308452.8:p.Gly74Val | |
| ENST00000463128.5:c.-312-83G>T | ENSP00000468672.1:n.-312-83G>T | |
| ENST00000491673.1:n.287G>T | ||
| ENST00000493253.5:n.8G>T | ||
| ENST00000540235.5:c.16G>T | ENSP00000441751.2:p.Gly6Trp | |
| ENST00000577817.3:c.176G>T | ENSP00000467418.1:p.Gly59Val | |
| NM_000422.2:c.221G>T | NP_000413.1:p.Gly74Val | |
| NM_000422.3:c.221G>T MANE Select | NP_000413.1:p.Gly74Val |