Linked Data
ClinVar Variation Id:
52187
ClinVar RCV Id:
RCV000045051
RCV000077384
RCV000074550
RCV000168529
RCV000362403
RCV000579605
RCV000656581
RCV001798237
RCV001353785
RCV004542703
dbSNP Id:
rs81002830
ExAC:
13:32893207 T / A
gnomAD v2:
13-32893207-T-A
gnomAD v3:
13-32319070-T-A
gnomAD v4:
13-32319070-T-A
PubMed:
PMID:10449599
PMID:10534775
PMID:10923033
PMID:12237285
PMID:14647210
PMID:17233897
PMID:17971607
PMID:18284688
PMID:18627636
PMID:18693280
PMID:20215541
PMID:20927582
PMID:21673748
PMID:21702907
PMID:21939546
PMID:22144684
PMID:22505045
PMID:22666503
PMID:22848303
PMID:23249957
PMID:23633455
PMID:23891399
PMID:24607278
PMID:25146914
PMID:27495310
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32319070T>A , CM000675.2:g.32319070T>A | GRCh38 |
| NC_000013.10:g.32893207T>A , CM000675.1:g.32893207T>A | GRCh37 |
| NC_000013.9:g.31791207T>A | NCBI36 |
| NG_012772.3:g.8591T>A , LRG_293:g.8591T>A | |
| NG_017006.2:g.1294A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.68-7T>A | ENSP00000434898.2:n.68-7T>A | |
| ENST00000528762.2:c.68-7T>A | ENSP00000433168.2:n.68-7T>A | |
| ENST00000530893.7:c.-302-7T>A | ENSP00000499438.2:n.-302-7T>A | |
| ENST00000665585.2:c.68-7T>A | ENSP00000499570.2:n.68-7T>A | |
| ENST00000666593.2:c.68-7T>A | ENSP00000499256.2:n.68-7T>A | |
| ENST00000700202.2:c.68-7T>A | ENSP00000514856.2:n.68-7T>A | |
| ENST00000700200.1:n.191+2543T>A | ||
| ENST00000700201.1:c.68-7T>A | ENSP00000514855.1:n.68-7T>A | |
| ENST00000380152.8:c.68-7T>A MANE Select | ENSP00000369497.3:n.68-7T>A | |
| ENST00000544455.6:c.68-7T>A | ENSP00000439902.1:n.68-7T>A | |
| ENST00000614259.2:c.68-7T>A | ENSP00000506251.1:n.68-7T>A | |
| ENST00000680887.1:c.68-7T>A | ENSP00000505508.1:n.68-7T>A | |
| ENST00000380152.7:c.68-7T>A | ENSP00000369497.3:n.68-7T>A | |
| ENST00000530893.6:n.266-7T>A | ||
| ENST00000544455.5:c.68-7T>A | ENSP00000439902.1:n.68-7T>A | |
| ENST00000614259.1:n.68-7T>A | ||
| NM_000059.3:c.68-7T>A , LRG_293t1:c.68-7T>A | NP_000050.2:n.68-7T>A | |
| XM_011535203.1:c.68-7T>A | XP_011533505.1:n.68-7T>A | |
| XM_011535204.1:c.68-7T>A | XP_011533506.1:n.68-7T>A | |
| XM_011535205.1:c.68-7T>A | XP_011533507.1:n.68-7T>A | |
| NM_000059.4:c.68-7T>A MANE Select | NP_000050.3:n.68-7T>A |