Linked Data
dbSNP Id:
rs753113241
ExAC:
20:948731 C / T
gnomAD v2:
20-948731-C-T
gnomAD v3:
20-968088-C-T
gnomAD v4:
20-968088-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.968088C>T , CM000682.2:g.968088C>T | GRCh38 |
| NC_000020.10:g.948731C>T , CM000682.1:g.948731C>T | GRCh37 |
| NC_000020.9:g.896731C>T | NCBI36 |
| NG_013043.1:g.39177G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217260.9:c.130G>A MANE Select | ENSP00000217260.4:p.Glu44Lys | |
| ENST00000217260.8:c.130G>A | ENSP00000217260.4:p.Glu44Lys | |
| ENST00000400634.2:c.130G>A | ENSP00000383475.2:p.Glu44Lys | |
| NM_001029871.3:c.130G>A | NP_001025042.2:p.Glu44Lys | |
| NM_001040007.2:c.130G>A | NP_001035096.1:p.Glu44Lys | |
| XM_011529232.1:c.178G>A | XP_011527534.1:p.Glu60Lys | |
| XM_011529233.1:c.178G>A | XP_011527535.1:p.Glu60Lys | |
| XR_937068.1:n.250G>A | ||
| XR_937069.1:n.245G>A | ||
| XM_017027839.1:c.130G>A | XP_016883328.1:p.Glu44Lys | |
| NM_001029871.4:c.130G>A MANE Select | NP_001025042.2:p.Glu44Lys | |
| NM_001040007.3:c.130G>A | NP_001035096.1:p.Glu44Lys |