Linked Data
ClinVar Variation Id:
38131
ClinVar RCV Id:
RCV000031713
RCV000045366
RCV000131687
RCV000212266
RCV000785230
RCV001171449
RCV001358381
RCV003473214
RCV004541048
dbSNP Id:
rs80359027
ExAC:
13:32936830 G / A
gnomAD v2:
13-32936830-G-A
gnomAD v4:
13-32362693-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32362693G>A , CM000675.2:g.32362693G>A | GRCh38 |
| NC_000013.10:g.32936830G>A , CM000675.1:g.32936830G>A | GRCh37 |
| NC_000013.9:g.31834830G>A | NCBI36 |
| NG_012772.3:g.52214G>A , LRG_293:g.52214G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7976G>A | ENSP00000434898.2:p.Arg2659Lys | |
| ENST00000528762.2:c.7976G>A | ENSP00000433168.2:p.Arg2659Lys | |
| ENST00000530893.7:c.7607G>A | ENSP00000499438.2:p.Arg2536Lys | |
| ENST00000665585.2:c.7976G>A | ENSP00000499570.2:p.Arg2659Lys | |
| ENST00000666593.2:c.7976G>A | ENSP00000499256.2:p.Arg2659Lys | |
| ENST00000700202.2:c.7976G>A | ENSP00000514856.2:p.Arg2659Lys | |
| ENST00000700202.1:c.443G>A | ENSP00000514856.1:p.Arg148Lys | |
| ENST00000380152.8:c.7976G>A MANE Select | ENSP00000369497.3:p.Arg2659Lys | |
| ENST00000544455.6:c.7976G>A | ENSP00000439902.1:p.Arg2659Lys | |
| ENST00000614259.2:c.7984G>A | ENSP00000506251.1:n.7984G>A | |
| ENST00000665585.1:c.541G>A | ||
| ENST00000680887.1:c.7976G>A | ENSP00000505508.1:p.Arg2659Lys | |
| ENST00000380152.7:c.7976G>A | ENSP00000369497.3:p.Arg2659Lys | |
| ENST00000544455.5:c.7976G>A | ENSP00000439902.1:p.Arg2659Lys | |
| NM_000059.3:c.7976G>A , LRG_293t1:c.7976G>A | NP_000050.2:p.Arg2659Lys | |
| XM_011535203.1:c.7976G>A | XP_011533505.1:p.Arg2659Lys | |
| XM_011535204.1:c.7880G>A | XP_011533506.1:p.Arg2627Lys | |
| XM_011535205.1:c.7976G>A | XP_011533507.1:p.Arg2659Lys | |
| NM_000059.4:c.7976G>A MANE Select | NP_000050.3:p.Arg2659Lys |