Linked Data
ClinVar Variation Id:
242994
dbSNP Id:
rs138085358
ExAC:
5:36686238 G / A
gnomAD v2:
5-36686238-G-A
gnomAD v3:
5-36686136-G-A
gnomAD v4:
5-36686136-G-A
PubMed:
PMID:25497598
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36686136G>A , CM000667.2:g.36686136G>A | GRCh38 |
| NC_000005.9:g.36686238G>A , CM000667.1:g.36686238G>A | GRCh37 |
| NC_000005.8:g.36721995G>A | NCBI36 |
| NG_015890.1:g.84782G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265113.9:c.1496G>A MANE Select | ENSP00000265113.4:p.Arg499Gln | |
| ENST00000381918.4:c.1496G>A | ENSP00000371343.4:p.Arg499Gln | |
| ENST00000612708.5:c.1160G>A | ENSP00000483657.1:p.Arg387Gln | |
| ENST00000613445.5:c.1358G>A | ENSP00000477672.1:p.Arg453Gln | |
| ENST00000624112.2:n.4489G>A | ||
| ENST00000679784.1:c.*1408G>A | ENSP00000506030.1:n.*1408G>A | |
| ENST00000679852.1:c.306G>A | ||
| ENST00000679958.1:c.391G>A | ENSP00000505246.1:p.Asp131Asn | |
| ENST00000679983.1:c.1496G>A | ENSP00000505238.1:p.Arg499Gln | |
| ENST00000679992.1:c.1496G>A | ENSP00000506585.1:p.Arg499Gln | |
| ENST00000680048.1:c.*1989G>A | ENSP00000505296.1:n.*1989G>A | |
| ENST00000680125.1:c.1361G>A | ENSP00000506424.1:p.Arg454Gln | |
| ENST00000680232.1:c.1637G>A | ENSP00000506207.1:p.Arg546Gln | |
| ENST00000680318.1:c.1496G>A | ENSP00000505057.1:p.Arg499Gln | |
| ENST00000680568.1:n.724G>A | ||
| ENST00000680655.1:c.*1208G>A | ENSP00000506436.1:n.*1208G>A | |
| ENST00000680876.1:n.4677G>A | ||
| ENST00000680878.1:n.4542G>A | ||
| ENST00000681440.1:c.250G>A | ||
| ENST00000681633.1:n.4304G>A | ||
| ENST00000681909.1:c.1358G>A | ENSP00000506599.1:p.Arg453Gln | |
| ENST00000681926.1:c.1361G>A | ENSP00000505850.1:p.Arg454Gln | |
| ENST00000265113.8:c.1496G>A | ENSP00000265113.4:p.Arg499Gln | |
| ENST00000381918.3:c.1361G>A | ENSP00000371343.3:p.Arg454Gln | |
| ENST00000506178.1:n.450G>A | ||
| ENST00000612708.4:c.1160G>A | ENSP00000483657.1:p.Arg387Gln | |
| ENST00000613445.4:c.1358G>A | ENSP00000477672.1:p.Arg453Gln | |
| NM_001166695.2:c.1361G>A | NP_001160167.1:p.Arg454Gln | |
| NM_001289939.1:c.1358G>A | NP_001276868.1:p.Arg453Gln | |
| NM_001289940.1:c.1160G>A | NP_001276869.1:p.Arg387Gln | |
| NM_004172.4:c.1496G>A | NP_004163.3:p.Arg499Gln | |
| XM_005248342.1:c.1496G>A | XP_005248399.1:p.Arg499Gln | |
| XM_011514084.1:c.1175G>A | XP_011512386.1:p.Arg392Gln | |
| XM_005248342.3:c.1496G>A | XP_005248399.1:p.Arg499Gln | |
| XM_011514084.2:c.1175G>A | XP_011512386.1:p.Arg392Gln | |
| XM_024446181.1:c.1496G>A | XP_024301949.1:p.Arg499Gln | |
| XM_024446182.1:c.1361G>A | XP_024301950.1:p.Arg454Gln | |
| NM_004172.5:c.1496G>A MANE Select | NP_004163.3:p.Arg499Gln | |
| NM_001166695.3:c.1361G>A | NP_001160167.1:p.Arg454Gln | |
| NM_001289939.2:c.1358G>A | NP_001276868.1:p.Arg453Gln | |
| NM_001289940.2:c.1160G>A | NP_001276869.1:p.Arg387Gln |