Linked Data
ClinVar Variation Id:
216753
dbSNP Id:
rs747785029
ExAC:
16:23619288 C / T
gnomAD v2:
16-23619288-C-T
gnomAD v3:
16-23607967-C-T
gnomAD v4:
16-23607967-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23607967C>T , CM000678.2:g.23607967C>T | GRCh38 |
| NC_000016.9:g.23619288C>T , CM000678.1:g.23619288C>T | GRCh37 |
| NC_000016.8:g.23526789C>T | NCBI36 |
| NG_007406.1:g.38391G>A , LRG_308:g.38391G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3253G>A | ENSP00000460666.3:p.Glu1085Lys | |
| ENST00000565038.2:c.*728G>A | ENSP00000459882.2:n.*728G>A | |
| ENST00000566069.6:c.3202-4298G>A | ENSP00000459237.2:n.3202-4298G>A | |
| ENST00000697377.2:c.3091G>A | ENSP00000513286.2:p.Glu1031Lys | |
| ENST00000697379.2:c.3253G>A | ENSP00000513287.2:p.Glu1085Lys | |
| ENST00000561514.2:c.2362G>A | ENSP00000460666.2:p.Glu788Lys | |
| ENST00000697374.1:c.2362G>A | ENSP00000513284.1:p.Glu788Lys | |
| ENST00000697375.1:n.4594G>A | ||
| ENST00000697376.1:c.2317-4298G>A | ENSP00000513285.1:n.2317-4298G>A | |
| ENST00000697377.1:c.2200G>A | ENSP00000513286.1:p.Glu734Lys | |
| ENST00000697378.1:n.3767G>A | ||
| ENST00000697379.1:c.2362G>A | ENSP00000513287.1:p.Glu788Lys | |
| ENST00000697380.1:n.2451G>A | ||
| ENST00000697381.1:n.1942G>A | ||
| ENST00000697382.1:c.*24G>A | ENSP00000513288.1:n.*24G>A | |
| ENST00000697383.1:c.781G>A | ENSP00000513289.1:p.Glu261Lys | |
| ENST00000261584.9:c.3247G>A MANE Select | ENSP00000261584.4:p.Glu1083Lys | |
| ENST00000261584.8:c.3247G>A | ENSP00000261584.4:p.Glu1083Lys | |
| ENST00000566069.5:c.117-4298G>A | ||
| ENST00000568219.5:c.2362G>A | ENSP00000454703.2:p.Glu788Lys | |
| NM_024675.3:c.3247G>A , LRG_308t1:c.3247G>A | NP_078951.2:p.Glu1083Lys | |
| XM_011545946.1:c.3253G>A | XP_011544248.1:p.Glu1085Lys | |
| XM_011545947.1:c.3208-4298G>A | XP_011544249.1:n.3208-4298G>A | |
| XM_011545948.1:c.2362G>A | XP_011544250.1:p.Glu788Lys | |
| XR_950851.1:n.3955G>A | ||
| XM_011545946.2:c.3253G>A | XP_011544248.1:p.Glu1085Lys | |
| XM_011545947.2:c.3208-4298G>A | XP_011544249.1:n.3208-4298G>A | |
| XM_011545948.2:c.2362G>A | XP_011544250.1:p.Glu788Lys | |
| XM_017023671.1:c.3120-4298G>A | XP_016879160.1:n.3120-4298G>A | |
| XM_017023672.2:c.3114-4298G>A | XP_016879161.1:n.3114-4298G>A | |
| XM_017023673.2:c.3202-4298G>A | XP_016879162.1:n.3202-4298G>A | |
| NM_024675.4:c.3247G>A MANE Select | NP_078951.2:p.Glu1083Lys |