Linked Data
ClinVar Variation Id:
220152
ClinVar RCV Id:
RCV000206013
RCV000255589
RCV000415187
RCV000492716
RCV000999744
RCV001009595
RCV001814116
RCV003165492
dbSNP Id:
rs760703505
ExAC:
17:29588751 C / T
gnomAD v2:
17-29588751-C-T
gnomAD v3:
17-31261733-C-T
gnomAD v4:
17-31261733-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31261733C>T , CM000679.2:g.31261733C>T | GRCh38 |
| NC_000017.10:g.29588751C>T , CM000679.1:g.29588751C>T | GRCh37 |
| NC_000017.9:g.26612877C>T | NCBI36 |
| NG_009018.1:g.171757C>T , LRG_214:g.171757C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000581113.7:c.402C>T | ENSP00000492721.2:p.Asp134= | |
| ENST00000696138.1:c.4582C>T | ENSP00000512431.1:p.Arg1528Ter | |
| ENST00000696140.1:n.706C>T | ||
| ENST00000696141.1:c.591C>T | ||
| ENST00000687863.1:n.1245C>T | ||
| ENST00000691014.1:c.4630C>T | ENSP00000510595.1:p.Arg1544Ter | |
| ENST00000358273.9:c.4600C>T MANE Select | ENSP00000351015.4:p.Arg1534Ter | |
| ENST00000356175.7:c.4537C>T | ENSP00000348498.3:p.Arg1513Ter | |
| ENST00000358273.8:c.4600C>T | ENSP00000351015.4:p.Arg1534Ter | |
| ENST00000456735.6:c.3535C>T | ENSP00000389907.2:p.Arg1179Ter | |
| ENST00000466819.5:c.1116C>T | ||
| ENST00000479614.1:c.1053C>T | ||
| ENST00000493220.5:n.3073C>T | ||
| ENST00000579081.5:c.4639C>T | ENSP00000462408.1:p.Arg1547Ter | |
| NM_000267.3:c.4537C>T , LRG_214t1:c.4537C>T | NP_000258.1:p.Arg1513Ter | |
| NM_001042492.2:c.4600C>T , LRG_214t2:c.4600C>T | NP_001035957.1:p.Arg1534Ter | |
| XM_005257983.1:c.4600C>T | XP_005258040.1:p.Arg1534Ter | |
| XM_005257984.1:c.4537C>T | XP_005258041.1:p.Arg1513Ter | |
| XM_006721922.1:c.4630C>T | XP_006721985.1:p.Arg1544Ter | |
| XM_006721923.2:c.4591C>T | XP_006721986.1:p.Arg1531Ter | |
| XM_006721924.1:c.4630C>T | XP_006721987.1:p.Arg1544Ter | |
| XM_006721925.1:c.4567C>T | XP_006721988.1:p.Arg1523Ter | |
| XM_006721926.2:c.4630C>T | XP_006721989.1:p.Arg1544Ter | |
| XM_006721927.1:c.4630C>T | XP_006721990.1:p.Arg1544Ter | |
| XM_006721928.2:c.4630C>T | XP_006721991.1:p.Arg1544Ter | |
| XM_011524852.1:c.4627C>T | XP_011523154.1:p.Arg1543Ter | |
| XM_011524853.1:c.4591C>T | XP_011523155.1:p.Arg1531Ter | |
| XM_011524854.1:c.4591C>T | XP_011523156.1:p.Arg1531Ter | |
| XM_011524855.1:c.4591C>T | XP_011523157.1:p.Arg1531Ter | |
| XM_011524856.1:c.4591C>T | XP_011523158.1:p.Arg1531Ter | |
| XM_011524857.1:c.4630C>T | XP_011523159.1:p.Arg1544Ter | |
| NM_001042492.3:c.4600C>T MANE Select | NP_001035957.1:p.Arg1534Ter |