Linked Data
ClinVar Variation Id:
2637664
ClinVar RCV Id:
RCV003404962
dbSNP Id:
rs28940579
ExAC:
16:3293310 A / T
gnomAD v2:
16-3293310-A-T
gnomAD v4:
16-3243310-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243310A>T , CM000678.2:g.3243310A>T | GRCh38 |
| NC_000016.9:g.3293310A>T , CM000678.1:g.3293310A>T | GRCh37 |
| NC_000016.8:g.3233311A>T | NCBI36 |
| NG_007871.1:g.18318T>A , LRG_190:g.18318T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1298T>A | ||
| ENST00000219596.6:c.2177T>A MANE Select | ENSP00000219596.1:p.Val726Asp | |
| ENST00000219596.5:c.2177T>A | ENSP00000219596.1:p.Val726Asp | |
| ENST00000339854.8:c.1637T>A | ENSP00000339639.4:p.Val546Asp | |
| ENST00000536379.5:c.1544T>A | ENSP00000445079.1:p.Val515Asp | |
| ENST00000536980.5:c.*453T>A | ENSP00000444178.1:n.*453T>A | |
| ENST00000537682.5:c.*453T>A | ENSP00000438611.1:n.*453T>A | |
| ENST00000538326.5:c.*802T>A | ENSP00000437486.1:n.*802T>A | |
| ENST00000539145.5:c.1098T>A | ENSP00000444471.1:n.1098T>A | |
| ENST00000541159.5:c.1719T>A | ENSP00000438711.1:n.1719T>A | |
| ENST00000542898.5:c.*453T>A | ENSP00000444615.1:n.*453T>A | |
| ENST00000570511.5:c.1582T>A | ENSP00000458312.1:n.1582T>A | |
| ENST00000572244.5:c.867T>A | ENSP00000461186.1:n.867T>A | |
| ENST00000574583.5:c.949T>A | ENSP00000460269.1:n.949T>A | |
| ENST00000576315.5:c.982T>A | ENSP00000460551.1:n.982T>A | |
| ENST00000621655.1:c.1714T>A | ENSP00000481436.1:n.1714T>A | |
| NM_000243.2:c.2177T>A , LRG_190t1:c.2177T>A | NP_000234.1:p.Val726Asp | |
| NM_001198536.1:c.*381T>A | NP_001185465.1:n.*381T>A | |
| XM_017023236.2:c.2174T>A | XP_016878725.1:p.Val725Asp | |
| NM_000243.3:c.2177T>A MANE Select | NP_000234.1:p.Val726Asp | |
| NM_001198536.2:c.*381T>A | NP_001185465.2:n.*381T>A |