Linked Data
ClinVar Variation Id:
1734751
dbSNP Id:
rs577006107
ExAC:
16:23647491 C / T
gnomAD v2:
16-23647491-C-T
gnomAD v3:
16-23636170-C-T
gnomAD v4:
16-23636170-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23636170C>T , CM000678.2:g.23636170C>T | GRCh38 |
| NC_000016.9:g.23647491C>T , CM000678.1:g.23647491C>T | GRCh37 |
| NC_000016.8:g.23554992C>T | NCBI36 |
| NG_007406.1:g.10188G>A , LRG_308:g.10188G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.382G>A | ENSP00000460666.3:p.Glu128Lys | |
| ENST00000565038.2:c.211+1680G>A | ENSP00000459882.2:n.211+1680G>A | |
| ENST00000566069.6:c.376G>A | ENSP00000459237.2:p.Glu126Lys | |
| ENST00000697377.2:c.382G>A | ENSP00000513286.2:p.Glu128Lys | |
| ENST00000697379.2:c.382G>A | ENSP00000513287.2:p.Glu128Lys | |
| ENST00000561514.2:c.-510G>A | ENSP00000460666.2:n.-510G>A | |
| ENST00000697374.1:c.-510G>A | ENSP00000513284.1:n.-510G>A | |
| ENST00000697375.1:n.1723G>A | ||
| ENST00000697376.1:c.-510G>A | ENSP00000513285.1:n.-510G>A | |
| ENST00000697377.1:c.-510G>A | ENSP00000513286.1:n.-510G>A | |
| ENST00000697378.1:n.896G>A | ||
| ENST00000697379.1:c.-510G>A | ENSP00000513287.1:n.-510G>A | |
| ENST00000697382.1:c.-510G>A | ENSP00000513288.1:n.-510G>A | |
| ENST00000697383.1:c.48+4940G>A | ENSP00000513289.1:n.48+4940G>A | |
| ENST00000697384.1:n.530G>A | ||
| ENST00000261584.9:c.376G>A MANE Select | ENSP00000261584.4:p.Glu126Lys | |
| ENST00000261584.8:c.376G>A | ENSP00000261584.4:p.Glu126Lys | |
| ENST00000565038.1:c.86+1680G>A | ||
| ENST00000567003.1:n.654G>A | ||
| ENST00000568219.5:c.-510G>A | ENSP00000454703.2:n.-510G>A | |
| NM_024675.3:c.376G>A , LRG_308t1:c.376G>A | NP_078951.2:p.Glu126Lys | |
| XM_011545946.1:c.382G>A | XP_011544248.1:p.Glu128Lys | |
| XM_011545947.1:c.382G>A | XP_011544249.1:p.Glu128Lys | |
| XM_011545948.1:c.-510G>A | XP_011544250.1:n.-510G>A | |
| XR_950851.1:n.1172G>A | ||
| XM_011545946.2:c.382G>A | XP_011544248.1:p.Glu128Lys | |
| XM_011545947.2:c.382G>A | XP_011544249.1:p.Glu128Lys | |
| XM_011545948.2:c.-510G>A | XP_011544250.1:n.-510G>A | |
| XM_017023671.1:c.382G>A | XP_016879160.1:p.Glu128Lys | |
| XM_017023672.2:c.376G>A | XP_016879161.1:p.Glu126Lys | |
| XM_017023673.2:c.376G>A | XP_016879162.1:p.Glu126Lys | |
| NM_024675.4:c.376G>A MANE Select | NP_078951.2:p.Glu126Lys |