Linked Data
dbSNP Id:
rs748638528
ExAC:
20:948734 C / T
gnomAD v2:
20-948734-C-T
gnomAD v3:
20-968091-C-T
gnomAD v4:
20-968091-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.968091C>T , CM000682.2:g.968091C>T | GRCh38 |
| NC_000020.10:g.948734C>T , CM000682.1:g.948734C>T | GRCh37 |
| NC_000020.9:g.896734C>T | NCBI36 |
| NG_013043.1:g.39174G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217260.9:c.127G>A MANE Select | ENSP00000217260.4:p.Glu43Lys | |
| ENST00000217260.8:c.127G>A | ENSP00000217260.4:p.Glu43Lys | |
| ENST00000400634.2:c.127G>A | ENSP00000383475.2:p.Glu43Lys | |
| NM_001029871.3:c.127G>A | NP_001025042.2:p.Glu43Lys | |
| NM_001040007.2:c.127G>A | NP_001035096.1:p.Glu43Lys | |
| XM_011529232.1:c.175G>A | XP_011527534.1:p.Glu59Lys | |
| XM_011529233.1:c.175G>A | XP_011527535.1:p.Glu59Lys | |
| XR_937068.1:n.247G>A | ||
| XR_937069.1:n.242G>A | ||
| XM_017027839.1:c.127G>A | XP_016883328.1:p.Glu43Lys | |
| NM_001029871.4:c.127G>A MANE Select | NP_001025042.2:p.Glu43Lys | |
| NM_001040007.3:c.127G>A | NP_001035096.1:p.Glu43Lys |