Linked Data
ClinVar Variation Id:
713342
dbSNP Id:
rs150683478
ExAC:
3:10401618 C / T
gnomAD v2:
3-10401618-C-T
gnomAD v3:
3-10359934-C-T
gnomAD v4:
3-10359934-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10359934C>T , CM000665.2:g.10359934C>T | GRCh38 |
| NC_000003.11:g.10401618C>T , CM000665.1:g.10401618C>T | GRCh37 |
| NC_000003.10:g.10376618C>T | NCBI36 |
| NG_012046.1:g.150651G>A | |
| NG_012046.2:g.353098G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644807.2:c.1714G>A | ENSP00000495228.1:p.Asp572Asn | |
| ENST00000352432.9:c.1816G>A | ENSP00000324172.6:p.Asp606Asn | |
| ENST00000360273.7:c.1849G>A MANE Select | ENSP00000353414.2:p.Asp617Asn | |
| ENST00000397077.6:c.1714G>A | ENSP00000380267.1:p.Asp572Asn | |
| ENST00000452124.2:c.1756G>A | ENSP00000414854.2:p.Asp586Asn | |
| ENST00000638646.2:c.1714G>A | ENSP00000492732.2:p.Asp572Asn | |
| ENST00000643662.1:c.1756G>A | ENSP00000495924.1:p.Asp586Asn | |
| ENST00000644553.1:c.1108G>A | ENSP00000494004.1:p.Asp370Asn | |
| ENST00000644807.1:c.1714G>A | ENSP00000495228.1:p.Asp572Asn | |
| ENST00000645850.1:c.1849G>A | ENSP00000494716.1:p.Asp617Asn | |
| ENST00000646379.1:c.1714G>A | ENSP00000494381.1:p.Asp572Asn | |
| ENST00000352432.8:c.1849G>A | ENSP00000324172.5:p.Asp617Asn | |
| ENST00000360273.6:c.1849G>A | ENSP00000353414.2:p.Asp617Asn | |
| ENST00000383800.8:c.1714G>A | ENSP00000373311.4:p.Asp572Asn | |
| ENST00000397077.5:c.1714G>A | ENSP00000380267.1:p.Asp572Asn | |
| ENST00000452124.1:c.1417G>A | ENSP00000414854.1:p.Asp473Asn | |
| ENST00000460129.5:c.1714G>A | ENSP00000424494.1:p.Asp572Asn | |
| NM_001001331.2:c.1849G>A | NP_001001331.1:p.Asp617Asn | |
| NM_001683.3:c.1714G>A | NP_001674.2:p.Asp572Asn | |
| XM_005265179.3:c.1849G>A | XP_005265236.1:p.Asp617Asn | |
| XM_006713175.2:c.1849G>A | XP_006713238.1:p.Asp617Asn | |
| XM_011533751.1:c.1849G>A | XP_011532053.1:p.Asp617Asn | |
| XM_011533752.1:c.1849G>A | XP_011532054.1:p.Asp617Asn | |
| XM_011533753.1:c.1816G>A | XP_011532055.1:p.Asp606Asn | |
| XM_011533754.1:c.1756G>A | XP_011532056.1:p.Asp586Asn | |
| XM_011533755.1:c.1849G>A | XP_011532057.1:p.Asp617Asn | |
| XM_011533756.1:c.1849G>A | XP_011532058.1:p.Asp617Asn | |
| XM_011533757.1:c.1714G>A | XP_011532059.1:p.Asp572Asn | |
| XM_011533758.1:c.1756G>A | XP_011532060.1:p.Asp586Asn | |
| XM_011533759.1:c.781G>A | XP_011532061.1:p.Asp261Asn | |
| NM_001001331.3:c.1849G>A | NP_001001331.1:p.Asp617Asn | |
| NM_001330611.2:c.1714G>A | NP_001317540.1:p.Asp572Asn | |
| NM_001353564.1:c.1714G>A | NP_001340493.1:p.Asp572Asn | |
| NM_001363862.1:c.1714G>A | NP_001350791.1:p.Asp572Asn | |
| NM_001683.4:c.1714G>A | NP_001674.2:p.Asp572Asn | |
| XM_005265179.5:c.1849G>A | XP_005265236.1:p.Asp617Asn | |
| XM_006713175.4:c.1849G>A | XP_006713238.1:p.Asp617Asn | |
| XM_011533752.3:c.1849G>A | XP_011532054.1:p.Asp617Asn | |
| XM_017006481.2:c.1849G>A | XP_016861970.1:p.Asp617Asn | |
| XM_017006482.2:c.1849G>A | XP_016861971.1:p.Asp617Asn | |
| XM_017006483.2:c.1756G>A | XP_016861972.1:p.Asp586Asn | |
| XM_017006484.2:c.1756G>A | XP_016861973.1:p.Asp586Asn | |
| XM_017006485.2:c.1849G>A | XP_016861974.1:p.Asp617Asn | |
| XM_017006486.2:c.1849G>A | XP_016861975.1:p.Asp617Asn | |
| XM_017006487.1:c.1714G>A | XP_016861976.1:p.Asp572Asn | |
| XM_017006488.2:c.1756G>A | XP_016861977.1:p.Asp586Asn | |
| XM_017006489.2:c.1756G>A | XP_016861978.1:p.Asp586Asn | |
| XM_017006492.2:c.1849G>A | XP_016861981.1:p.Asp617Asn | |
| NM_001001331.4:c.1849G>A MANE Select | NP_001001331.1:p.Asp617Asn | |
| NM_001330611.3:c.1714G>A | NP_001317540.1:p.Asp572Asn | |
| NM_001683.5:c.1714G>A | NP_001674.2:p.Asp572Asn |