Linked Data
ClinVar Variation Id:
181479
dbSNP Id:
rs730880980
gnomAD v3:
7-151565752-C-T
gnomAD v4:
7-151565752-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151565752C>T , CM000669.2:g.151565752C>T | GRCh38 |
| NC_000007.13:g.151262838C>T , CM000669.1:g.151262838C>T | GRCh37 |
| NC_000007.12:g.150893771C>T | NCBI36 |
| NG_007486.1:g.316479G>A | |
| NG_007486.2:g.316480G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478989.7:c.*103G>A | ENSP00000420645.3:n.*103G>A | |
| ENST00000652321.2:c.1364G>A | ENSP00000498886.2:p.Arg455Gln | |
| ENST00000287878.9:c.1367G>A MANE Select | ENSP00000287878.3:p.Arg456Gln | |
| ENST00000476632.2:c.644G>A | ENSP00000419493.2:p.Arg215Gln | |
| ENST00000478989.6:c.468G>A | ||
| ENST00000492843.6:c.992G>A | ENSP00000419577.2:p.Arg331Gln | |
| ENST00000650851.1:n.861G>A | ||
| ENST00000650858.1:c.584G>A | ENSP00000498384.1:p.Arg195Gln | |
| ENST00000650948.1:n.2296G>A | ||
| ENST00000651188.1:c.*480G>A | ENSP00000498557.1:n.*480G>A | |
| ENST00000651303.1:c.*686G>A | ENSP00000498428.1:n.*686G>A | |
| ENST00000651378.1:c.644G>A | ENSP00000499103.1:p.Arg215Gln | |
| ENST00000651764.1:c.1235G>A | ENSP00000498796.1:p.Arg412Gln | |
| ENST00000651836.1:c.1221G>A | ENSP00000499156.1:n.1221G>A | |
| ENST00000651954.1:n.1583G>A | ||
| ENST00000652047.1:c.1232G>A | ENSP00000499111.1:p.Arg411Gln | |
| ENST00000652136.1:n.1914G>A | ||
| ENST00000652159.1:c.1235G>A | ENSP00000499025.1:p.Arg412Gln | |
| ENST00000652397.1:c.*103G>A | ENSP00000498351.1:n.*103G>A | |
| ENST00000287878.8:c.1367G>A | ENSP00000287878.3:p.Arg456Gln | |
| ENST00000392801.6:c.1235G>A | ENSP00000376549.2:p.Arg412Gln | |
| ENST00000418337.6:c.644G>A | ENSP00000387386.2:p.Arg215Gln | |
| ENST00000478989.5:c.*103G>A | ENSP00000420645.1:n.*103G>A | |
| ENST00000492843.5:c.995G>A | ENSP00000419577.1:p.Arg332Gln | |
| NM_001040633.1:c.1235G>A | NP_001035723.1:p.Arg412Gln | |
| NM_001304527.1:c.992G>A | NP_001291456.1:p.Arg331Gln | |
| NM_001304531.1:c.644G>A | NP_001291460.1:p.Arg215Gln | |
| NM_016203.3:c.1367G>A | NP_057287.2:p.Arg456Gln | |
| NM_024429.1:c.644G>A | NP_077747.1:p.Arg215Gln | |
| XM_005250002.2:c.1367G>A | XP_005250059.1:p.Arg456Gln | |
| XM_005250004.2:c.1235G>A | XP_005250061.1:p.Arg412Gln | |
| XM_005250006.3:c.995G>A | XP_005250063.1:p.Arg332Gln | |
| XM_006716021.2:c.1355G>A | XP_006716084.1:p.Arg452Gln | |
| XM_011516282.1:c.1352G>A | XP_011514584.1:p.Arg451Gln | |
| XM_011516283.1:c.1355G>A | XP_011514585.1:p.Arg452Gln | |
| XM_011516284.1:c.1352G>A | XP_011514586.1:p.Arg451Gln | |
| XM_011516285.1:c.644G>A | XP_011514587.1:p.Arg215Gln | |
| XM_011516286.1:c.620G>A | XP_011514588.1:p.Arg207Gln | |
| XM_011516287.1:c.584G>A | XP_011514589.1:p.Arg195Gln | |
| NM_001363698.1:c.995G>A | NP_001350627.1:p.Arg332Gln | |
| XM_005250002.4:c.1367G>A | XP_005250059.1:p.Arg456Gln | |
| XM_005250004.4:c.1235G>A | XP_005250061.1:p.Arg412Gln | |
| XM_005250006.5:c.995G>A | XP_005250063.1:p.Arg332Gln | |
| XM_011516285.2:c.644G>A | XP_011514587.1:p.Arg215Gln | |
| XM_011516286.2:c.620G>A | XP_011514588.1:p.Arg207Gln | |
| XM_017012268.2:c.1232G>A | XP_016867757.1:p.Arg411Gln | |
| XM_017012269.1:c.1364G>A | XP_016867758.1:p.Arg455Gln | |
| XM_017012270.1:c.1235G>A | XP_016867759.1:p.Arg412Gln | |
| XM_017012271.2:c.1232G>A | XP_016867760.1:p.Arg411Gln | |
| XM_017012272.1:c.1232G>A | XP_016867761.1:p.Arg411Gln | |
| XM_017012274.2:c.641G>A | XP_016867763.1:p.Arg214Gln | |
| XM_017012275.2:c.584G>A | XP_016867764.1:p.Arg195Gln | |
| XM_017012276.2:c.641G>A | XP_016867765.1:p.Arg214Gln | |
| XM_017012277.2:c.620G>A | XP_016867766.1:p.Arg207Gln | |
| XM_017012278.1:c.584G>A | XP_016867767.1:p.Arg195Gln | |
| XM_017012279.2:c.584G>A | XP_016867768.1:p.Arg195Gln | |
| XM_017012280.2:c.584G>A | XP_016867769.1:p.Arg195Gln | |
| XM_017012281.2:c.584G>A | XP_016867770.1:p.Arg195Gln | |
| XM_024446786.1:c.1235G>A | XP_024302554.1:p.Arg412Gln | |
| XM_024446787.1:c.644G>A | XP_024302555.1:p.Arg215Gln | |
| XM_024446788.1:c.641G>A | XP_024302556.1:p.Arg214Gln | |
| XM_024446789.1:c.644G>A | XP_024302557.1:p.Arg215Gln | |
| NM_016203.4:c.1367G>A MANE Select | NP_057287.2:p.Arg456Gln | |
| NM_001040633.2:c.1235G>A | NP_001035723.1:p.Arg412Gln | |
| NM_001304527.2:c.992G>A | NP_001291456.1:p.Arg331Gln | |
| NM_001304531.2:c.644G>A | NP_001291460.1:p.Arg215Gln | |
| NM_001363698.2:c.995G>A | NP_001350627.1:p.Arg332Gln | |
| NM_024429.2:c.644G>A | NP_077747.1:p.Arg215Gln |