Linked Data
ClinVar Variation Id:
36506
ClinVar RCV Id:
RCV000030178
RCV000214973
RCV000589464
RCV001197906
RCV002262585
RCV002408482
RCV003224109
dbSNP Id:
rs11466045
ExAC:
16:3293880 A / G
gnomAD v2:
16-3293880-A-G
gnomAD v3:
16-3243880-A-G
gnomAD v4:
16-3243880-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243880A>G , CM000678.2:g.3243880A>G | GRCh38 |
| NC_000016.9:g.3293880A>G , CM000678.1:g.3293880A>G | GRCh37 |
| NC_000016.8:g.3233881A>G | NCBI36 |
| NG_007871.1:g.17748T>C , LRG_190:g.17748T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.893T>C | ||
| ENST00000219596.6:c.1772T>C MANE Select | ENSP00000219596.1:p.Ile591Thr | |
| ENST00000219596.5:c.1772T>C | ENSP00000219596.1:p.Ile591Thr | |
| ENST00000339854.8:c.1232T>C | ENSP00000339639.4:p.Ile411Thr | |
| ENST00000536379.5:c.1139T>C | ENSP00000445079.1:p.Ile380Thr | |
| ENST00000536980.5:c.*48T>C | ENSP00000444178.1:n.*48T>C | |
| ENST00000537682.5:c.*48T>C | ENSP00000438611.1:n.*48T>C | |
| ENST00000538326.5:c.*397T>C | ENSP00000437486.1:n.*397T>C | |
| ENST00000539145.5:c.693T>C | ENSP00000444471.1:n.693T>C | |
| ENST00000541159.5:c.1314T>C | ENSP00000438711.1:p.Asp438= | |
| ENST00000542898.5:c.*48T>C | ENSP00000444615.1:n.*48T>C | |
| ENST00000570511.5:c.1177T>C | ENSP00000458312.1:n.1177T>C | |
| ENST00000572244.5:c.462T>C | ENSP00000461186.1:n.462T>C | |
| ENST00000574583.5:c.544T>C | ENSP00000460269.1:n.544T>C | |
| ENST00000576315.5:c.577T>C | ENSP00000460551.1:n.577T>C | |
| ENST00000621655.1:c.1309T>C | ENSP00000481436.1:n.1309T>C | |
| NM_000243.2:c.1772T>C , LRG_190t1:c.1772T>C | NP_000234.1:p.Ile591Thr | |
| NM_001198536.1:c.1314T>C | NP_001185465.1:p.Asp438= | |
| XM_017023236.2:c.1769T>C | XP_016878725.1:p.Ile590Thr | |
| XR_001751903.1:n.2079T>C | ||
| NM_000243.3:c.1772T>C MANE Select | NP_000234.1:p.Ile591Thr | |
| NM_001198536.2:c.1314T>C | NP_001185465.2:p.Asp438= |