Linked Data
ClinVar Variation Id:
465337
ClinVar RCV Id:
RCV001158332
RCV001165047
RCV000560606
RCV000620896
RCV001177891
RCV001529850
RCV003387879
RCV003999158
dbSNP Id:
rs760826751
gnomAD v2:
7-151265921-C-T
gnomAD v3:
7-151568835-C-T
gnomAD v4:
7-151568835-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151568835C>T , CM000669.2:g.151568835C>T | GRCh38 |
| NC_000007.13:g.151265921C>T , CM000669.1:g.151265921C>T | GRCh37 |
| NC_000007.12:g.150896854C>T | NCBI36 |
| NG_007486.1:g.313396G>A | |
| NG_007486.2:g.313397G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478989.7:c.388G>A | ENSP00000420645.3:p.Asp130Asn | |
| ENST00000652321.2:c.1111G>A | ENSP00000498886.2:p.Asp371Asn | |
| ENST00000287878.9:c.1114G>A MANE Select | ENSP00000287878.3:p.Asp372Asn | |
| ENST00000476632.2:c.391G>A | ENSP00000419493.2:p.Asp131Asn | |
| ENST00000478989.6:c.174G>A | ||
| ENST00000492843.6:c.739G>A | ENSP00000419577.2:p.Asp247Asn | |
| ENST00000650851.1:n.608G>A | ||
| ENST00000650858.1:c.331G>A | ENSP00000498384.1:p.Asp111Asn | |
| ENST00000650948.1:n.1229G>A | ||
| ENST00000651188.1:c.*346+1336G>A | ENSP00000498557.1:n.*346+1336G>A | |
| ENST00000651303.1:c.*433G>A | ENSP00000498428.1:n.*433G>A | |
| ENST00000651378.1:c.391G>A | ENSP00000499103.1:p.Asp131Asn | |
| ENST00000651764.1:c.982G>A | ENSP00000498796.1:p.Asp328Asn | |
| ENST00000651836.1:c.882G>A | ENSP00000499156.1:n.882G>A | |
| ENST00000652047.1:c.979G>A | ENSP00000499111.1:p.Asp327Asn | |
| ENST00000652136.1:n.847G>A | ||
| ENST00000652159.1:c.982G>A | ENSP00000499025.1:p.Asp328Asn | |
| ENST00000652397.1:c.391G>A | ENSP00000498351.1:p.Asp131Asn | |
| ENST00000287878.8:c.1114G>A | ENSP00000287878.3:p.Asp372Asn | |
| ENST00000392801.6:c.982G>A | ENSP00000376549.2:p.Asp328Asn | |
| ENST00000418337.6:c.391G>A | ENSP00000387386.2:p.Asp131Asn | |
| ENST00000476632.1:c.391G>A | ENSP00000419493.1:p.Asp131Asn | |
| ENST00000478989.5:c.166G>A | ENSP00000420645.1:p.Asp56Asn | |
| ENST00000488258.5:c.*354G>A | ENSP00000420783.1:n.*354G>A | |
| ENST00000492843.5:c.742G>A | ENSP00000419577.1:p.Asp248Asn | |
| NM_001040633.1:c.982G>A | NP_001035723.1:p.Asp328Asn | |
| NM_001304527.1:c.739G>A | NP_001291456.1:p.Asp247Asn | |
| NM_001304531.1:c.391G>A | NP_001291460.1:p.Asp131Asn | |
| NM_016203.3:c.1114G>A | NP_057287.2:p.Asp372Asn | |
| NM_024429.1:c.391G>A | NP_077747.1:p.Asp131Asn | |
| XM_005250002.2:c.1114G>A | XP_005250059.1:p.Asp372Asn | |
| XM_005250004.2:c.982G>A | XP_005250061.1:p.Asp328Asn | |
| XM_005250006.3:c.742G>A | XP_005250063.1:p.Asp248Asn | |
| XM_006716021.2:c.1102G>A | XP_006716084.1:p.Asp368Asn | |
| XM_011516282.1:c.1099G>A | XP_011514584.1:p.Asp367Asn | |
| XM_011516283.1:c.1102G>A | XP_011514585.1:p.Asp368Asn | |
| XM_011516284.1:c.1099G>A | XP_011514586.1:p.Asp367Asn | |
| XM_011516285.1:c.391G>A | XP_011514587.1:p.Asp131Asn | |
| XM_011516286.1:c.367G>A | XP_011514588.1:p.Asp123Asn | |
| XM_011516287.1:c.331G>A | XP_011514589.1:p.Asp111Asn | |
| NM_001363698.1:c.742G>A | NP_001350627.1:p.Asp248Asn | |
| XM_005250002.4:c.1114G>A | XP_005250059.1:p.Asp372Asn | |
| XM_005250004.4:c.982G>A | XP_005250061.1:p.Asp328Asn | |
| XM_005250006.5:c.742G>A | XP_005250063.1:p.Asp248Asn | |
| XM_011516285.2:c.391G>A | XP_011514587.1:p.Asp131Asn | |
| XM_011516286.2:c.367G>A | XP_011514588.1:p.Asp123Asn | |
| XM_017012268.2:c.979G>A | XP_016867757.1:p.Asp327Asn | |
| XM_017012269.1:c.1111G>A | XP_016867758.1:p.Asp371Asn | |
| XM_017012270.1:c.982G>A | XP_016867759.1:p.Asp328Asn | |
| XM_017012271.2:c.979G>A | XP_016867760.1:p.Asp327Asn | |
| XM_017012272.1:c.979G>A | XP_016867761.1:p.Asp327Asn | |
| XM_017012274.2:c.388G>A | XP_016867763.1:p.Asp130Asn | |
| XM_017012275.2:c.331G>A | XP_016867764.1:p.Asp111Asn | |
| XM_017012276.2:c.388G>A | XP_016867765.1:p.Asp130Asn | |
| XM_017012277.2:c.367G>A | XP_016867766.1:p.Asp123Asn | |
| XM_017012278.1:c.331G>A | XP_016867767.1:p.Asp111Asn | |
| XM_017012279.2:c.331G>A | XP_016867768.1:p.Asp111Asn | |
| XM_017012280.2:c.331G>A | XP_016867769.1:p.Asp111Asn | |
| XM_017012281.2:c.331G>A | XP_016867770.1:p.Asp111Asn | |
| XM_024446786.1:c.982G>A | XP_024302554.1:p.Asp328Asn | |
| XM_024446787.1:c.391G>A | XP_024302555.1:p.Asp131Asn | |
| XM_024446788.1:c.388G>A | XP_024302556.1:p.Asp130Asn | |
| XM_024446789.1:c.391G>A | XP_024302557.1:p.Asp131Asn | |
| NM_016203.4:c.1114G>A MANE Select | NP_057287.2:p.Asp372Asn | |
| NM_001040633.2:c.982G>A | NP_001035723.1:p.Asp328Asn | |
| NM_001304527.2:c.739G>A | NP_001291456.1:p.Asp247Asn | |
| NM_001304531.2:c.391G>A | NP_001291460.1:p.Asp131Asn | |
| NM_001363698.2:c.742G>A | NP_001350627.1:p.Asp248Asn | |
| NM_024429.2:c.391G>A | NP_077747.1:p.Asp131Asn |