Linked Data
ClinVar Variation Id:
1120398
ClinVar RCV Id:
RCV001450349
dbSNP Id:
rs779244985
ExAC:
16:3294513 C / T
gnomAD v2:
16-3294513-C-T
gnomAD v4:
16-3244513-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3244513C>T , CM000678.2:g.3244513C>T | GRCh38 |
| NC_000016.9:g.3294513C>T , CM000678.1:g.3294513C>T | GRCh37 |
| NC_000016.8:g.3234514C>T | NCBI36 |
| NG_007871.1:g.17115G>A , LRG_190:g.17115G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.807G>A | ||
| ENST00000219596.6:c.1686G>A MANE Select | ENSP00000219596.1:p.Gln562= | |
| ENST00000219596.5:c.1686G>A | ENSP00000219596.1:p.Gln562= | |
| ENST00000339854.8:c.1146G>A | ENSP00000339639.4:p.Gln382= | |
| ENST00000536379.5:c.1053G>A | ENSP00000445079.1:p.Gln351= | |
| ENST00000536980.5:c.1053G>A | ENSP00000444178.1:p.Gln351= | |
| ENST00000537682.5:c.1686G>A | ENSP00000438611.1:p.Gln562= | |
| ENST00000538326.5:c.*311G>A | ENSP00000437486.1:n.*311G>A | |
| ENST00000539145.5:c.607G>A | ENSP00000444471.1:n.607G>A | |
| ENST00000541159.5:c.1053G>A | ENSP00000438711.1:p.Gln351= | |
| ENST00000542898.5:c.1779G>A | ENSP00000444615.1:p.Gln593= | |
| ENST00000570511.5:c.1165-621G>A | ENSP00000458312.1:n.1165-621G>A | |
| ENST00000572244.5:c.376G>A | ENSP00000461186.1:n.376G>A | |
| ENST00000574583.5:c.532-621G>A | ENSP00000460269.1:n.532-621G>A | |
| ENST00000576315.5:c.532-227G>A | ENSP00000460551.1:n.532-227G>A | |
| ENST00000621655.1:c.1053G>A | ENSP00000481436.1:p.Gln351= | |
| NM_000243.2:c.1686G>A , LRG_190t1:c.1686G>A | NP_000234.1:p.Gln562= | |
| NM_001198536.1:c.1053G>A | NP_001185465.1:p.Gln351= | |
| XM_017023236.2:c.1683G>A | XP_016878725.1:p.Gln561= | |
| XR_001751903.1:n.1875G>A | ||
| NM_000243.3:c.1686G>A MANE Select | NP_000234.1:p.Gln562= | |
| NM_001198536.2:c.1053G>A | NP_001185465.2:p.Gln351= |