Linked Data
ClinVar Variation Id:
13326
ClinVar RCV Id:
RCV000014254
RCV000033516
RCV000077863
RCV000156977
RCV000621227
RCV000515324
RCV000576594
RCV000850589
RCV000999988
RCV001253546
RCV001270562
RCV001293867
RCV001813192
RCV003991568
RCV003147284
RCV004541002
dbSNP Id:
rs28933386
ExAC:
12:112915523 A / G
gnomAD v2:
12-112915523-A-G
gnomAD v3:
12-112477719-A-G
gnomAD v4:
12-112477719-A-G
COSMIC:
COSM24612
ERepo:
CA220158/MONDO:0018997/004
PubMed:
PMID:1258892
PMID:1543375
PMID:4025385
PMID:4386970
PMID:8530013
PMID:9222968
PMID:11704759
PMID:11992261
PMID:12161469
PMID:12634870
PMID:12717436
PMID:12960218
PMID:14974085
PMID:15001945
PMID:15240615
PMID:15248152
PMID:15539800
PMID:15723289
PMID:15834506
PMID:15929108
PMID:15956085
PMID:15987685
PMID:16263833
PMID:16358218
PMID:16377799
PMID:16399795
PMID:16498234
PMID:16523510
PMID:17020470
PMID:17056636
PMID:17143285
PMID:17222357
PMID:17339163
PMID:17515436
PMID:17546245
PMID:17661820
PMID:18253957
PMID:18331608
PMID:19077116
PMID:19133693
PMID:19206169
PMID:19352411
PMID:19467855
PMID:19509418
PMID:20301303
PMID:20308328
PMID:20979190
PMID:21340158
PMID:21396583
PMID:21407260
PMID:21500339
PMID:21533187
PMID:21567923
PMID:21590266
PMID:22190897
PMID:22465605
PMID:23726368
PMID:23891399
PMID:24628801
PMID:25326637
PMID:25912702
PMID:26249544
PMID:26297936
PMID:26785492
PMID:26817465
PMID:27479907
PMID:27521173
PMID:27619028
PMID:28135719
PMID:28483241
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112477719A>G , CM000674.2:g.112477719A>G | GRCh38 |
| NC_000012.11:g.112915523A>G , CM000674.1:g.112915523A>G | GRCh37 |
| NC_000012.10:g.111399906A>G | NCBI36 |
| NG_007459.1:g.63988A>G , LRG_614:g.63988A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.922A>G | ENSP00000491593.2:p.Asn308Asp | |
| ENST00000685487.1:c.922A>G | ENSP00000508503.1:p.Asn308Asp | |
| ENST00000687906.1:c.808A>G | ENSP00000509536.1:p.Asn270Asp | |
| ENST00000688597.1:c.922A>G | ENSP00000510628.1:p.Asn308Asp | |
| ENST00000690210.1:c.922A>G | ENSP00000509272.1:p.Asn308Asp | |
| ENST00000692624.1:c.922A>G | ENSP00000508953.1:p.Asn308Asp | |
| ENST00000351677.7:c.922A>G MANE Select | ENSP00000340944.3:p.Asn308Asp | |
| ENST00000351677.6:c.922A>G | ENSP00000340944.2:p.Asn308Asp | |
| ENST00000392597.5:c.922A>G | ENSP00000376376.1:p.Asn308Asp | |
| ENST00000635625.1:c.922A>G | ENSP00000489597.1:p.Asn308Asp | |
| NM_002834.3:c.922A>G , LRG_614t1:c.922A>G | NP_002825.3:p.Asn308Asp | |
| NM_080601.1:c.922A>G | NP_542168.1:p.Asn308Asp | |
| XM_006719526.1:c.922A>G | XP_006719589.1:p.Asn308Asp | |
| XM_006719527.1:c.808A>G | XP_006719590.1:p.Asn270Asp | |
| XM_011538613.1:c.919A>G | XP_011536915.1:p.Asn307Asp | |
| NM_001330437.1:c.922A>G | NP_001317366.1:p.Asn308Asp | |
| NM_002834.4:c.922A>G | NP_002825.3:p.Asn308Asp | |
| NM_080601.2:c.922A>G | NP_542168.1:p.Asn308Asp | |
| XM_011538613.2:c.919A>G | XP_011536915.1:p.Asn307Asp | |
| XM_017019722.1:c.919A>G | XP_016875211.1:p.Asn307Asp | |
| NM_001330437.2:c.922A>G | NP_001317366.1:p.Asn308Asp | |
| NM_001374625.1:c.919A>G | NP_001361554.1:p.Asn307Asp | |
| NM_002834.5:c.922A>G MANE Select | NP_002825.3:p.Asn308Asp | |
| NM_080601.3:c.922A>G | NP_542168.1:p.Asn308Asp |