Linked Data
ClinVar Variation Id:
38215
ClinVar RCV Id:
RCV000031798
RCV000074560
RCV000045725
RCV000131039
RCV000515207
RCV000763330
RCV001310189
RCV001171453
RCV001554310
RCV003473227
RCV003162286
dbSNP Id:
rs28897756
gnomAD v2:
13-32954050-G-A
gnomAD v3:
13-32379913-G-A
gnomAD v4:
13-32379913-G-A
PubMed:
PMID:9133456
PMID:10638982
PMID:11802209
PMID:11897832
PMID:16683254
PMID:17011978
PMID:17148771
PMID:17924331
PMID:18375895
PMID:18403564
PMID:18821011
PMID:19016756
PMID:19656164
PMID:19949876
PMID:20406929
PMID:20507642
PMID:21324516
PMID:21702907
PMID:21965345
PMID:21990134
PMID:22217648
PMID:22340495
PMID:22505045
PMID:22632462
PMID:22798144
PMID:22923021
PMID:23035815
PMID:23451180
PMID:24156927
PMID:24249303
PMID:25382762
PMID:25480878
PMID:25556971
PMID:25948282
PMID:26026974
PMID:26295337
PMID:26848529
PMID:27000661
PMID:27060066
PMID:27271530
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379913G>A , CM000675.2:g.32379913G>A | GRCh38 |
| NC_000013.10:g.32954050G>A , CM000675.1:g.32954050G>A | GRCh37 |
| NC_000013.9:g.31852050G>A | NCBI36 |
| NG_012772.3:g.69434G>A , LRG_293:g.69434G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9117G>A | ENSP00000434898.2:p.Pro3039= | |
| ENST00000528762.2:c.*484G>A | ENSP00000433168.2:n.*484G>A | |
| ENST00000530893.7:c.8748G>A | ENSP00000499438.2:p.Pro2916= | |
| ENST00000665585.2:c.*679G>A | ENSP00000499570.2:n.*679G>A | |
| ENST00000666593.2:c.9117G>A | ENSP00000499256.2:p.Pro3039= | |
| ENST00000700202.2:c.9066G>A | ENSP00000514856.2:p.Pro3022= | |
| ENST00000700202.1:c.1533G>A | ENSP00000514856.1:p.Pro511= | |
| ENST00000700203.1:n.1244G>A | ||
| ENST00000380152.8:c.9117G>A MANE Select | ENSP00000369497.3:p.Pro3039= | |
| ENST00000544455.6:c.9117G>A | ENSP00000439902.1:p.Pro3039= | |
| ENST00000614259.2:c.9125G>A | ENSP00000506251.1:n.9125G>A | |
| ENST00000665585.1:c.1995G>A | ||
| ENST00000680887.1:c.9117G>A | ENSP00000505508.1:p.Pro3039= | |
| ENST00000380152.7:c.9117G>A | ENSP00000369497.3:p.Pro3039= | |
| ENST00000470094.1:c.74G>A | ||
| ENST00000544455.5:c.9117G>A | ENSP00000439902.1:p.Pro3039= | |
| NM_000059.3:c.9117G>A , LRG_293t1:c.9117G>A | NP_000050.2:p.Pro3039= | |
| XM_011535203.1:c.9117G>A | XP_011533505.1:p.Pro3039= | |
| XM_011535204.1:c.9021G>A | XP_011533506.1:p.Pro3007= | |
| NM_000059.4:c.9117G>A MANE Select | NP_000050.3:p.Pro3039= |