Linked Data
ClinVar Variation Id:
336
ClinVar RCV Id:
RCV000000364
RCV000489593
RCV000626644
RCV000762990
RCV002310992
RCV002305424
RCV003460397
dbSNP Id:
rs137854550
ExAC:
17:29585518 A / G
gnomAD v2:
17-29585518-A-G
gnomAD v3:
17-31258500-A-G
gnomAD v4:
17-31258500-A-G
COSMIC:
COSM24576
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31258500A>G , CM000679.2:g.31258500A>G | GRCh38 |
| NC_000017.10:g.29585518A>G , CM000679.1:g.29585518A>G | GRCh37 |
| NC_000017.9:g.26609644A>G | NCBI36 |
| NG_009018.1:g.168524A>G , LRG_214:g.168524A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.118A>G | ENSP00000492721.2:p.Lys40Glu | |
| ENST00000696138.1:c.4312A>G | ENSP00000512431.1:p.Lys1438Glu | |
| ENST00000696140.1:n.436A>G | ||
| ENST00000696141.1:c.321A>G | ||
| ENST00000687863.1:n.975A>G | ||
| ENST00000691014.1:c.4360A>G | ENSP00000510595.1:p.Lys1454Glu | |
| ENST00000691649.1:n.302A>G | ||
| ENST00000358273.9:c.4330A>G MANE Select | ENSP00000351015.4:p.Lys1444Glu | |
| ENST00000356175.7:c.4267A>G | ENSP00000348498.3:p.Lys1423Glu | |
| ENST00000358273.8:c.4330A>G | ENSP00000351015.4:p.Lys1444Glu | |
| ENST00000456735.6:c.3265A>G | ENSP00000389907.2:p.Lys1089Glu | |
| ENST00000466819.5:c.846A>G | ||
| ENST00000479614.1:c.783A>G | ||
| ENST00000493220.5:n.2803A>G | ||
| ENST00000579081.5:c.4369A>G | ENSP00000462408.1:p.Lys1457Glu | |
| NM_000267.3:c.4267A>G , LRG_214t1:c.4267A>G | NP_000258.1:p.Lys1423Glu | |
| NM_001042492.2:c.4330A>G , LRG_214t2:c.4330A>G | NP_001035957.1:p.Lys1444Glu | |
| XM_005257983.1:c.4330A>G | XP_005258040.1:p.Lys1444Glu | |
| XM_005257984.1:c.4267A>G | XP_005258041.1:p.Lys1423Glu | |
| XM_006721922.1:c.4360A>G | XP_006721985.1:p.Lys1454Glu | |
| XM_006721923.2:c.4321A>G | XP_006721986.1:p.Lys1441Glu | |
| XM_006721924.1:c.4360A>G | XP_006721987.1:p.Lys1454Glu | |
| XM_006721925.1:c.4297A>G | XP_006721988.1:p.Lys1433Glu | |
| XM_006721926.2:c.4360A>G | XP_006721989.1:p.Lys1454Glu | |
| XM_006721927.1:c.4360A>G | XP_006721990.1:p.Lys1454Glu | |
| XM_006721928.2:c.4360A>G | XP_006721991.1:p.Lys1454Glu | |
| XM_011524852.1:c.4357A>G | XP_011523154.1:p.Lys1453Glu | |
| XM_011524853.1:c.4321A>G | XP_011523155.1:p.Lys1441Glu | |
| XM_011524854.1:c.4321A>G | XP_011523156.1:p.Lys1441Glu | |
| XM_011524855.1:c.4321A>G | XP_011523157.1:p.Lys1441Glu | |
| XM_011524856.1:c.4321A>G | XP_011523158.1:p.Lys1441Glu | |
| XM_011524857.1:c.4360A>G | XP_011523159.1:p.Lys1454Glu | |
| NM_001042492.3:c.4330A>G MANE Select | NP_001035957.1:p.Lys1444Glu |