Linked Data
ClinVar Variation Id:
40525
ClinVar RCV Id:
RCV000033505
RCV000077860
RCV000824745
RCV001283770
RCV001731328
RCV001813250
RCV002054539
RCV002273940
RCV002444453
RCV003153317
RCV003387505
dbSNP Id:
rs397507529
gnomAD v3:
12-112473031-A-G
gnomAD v4:
12-112473031-A-G
PubMed:
PMID:1258892
PMID:1543375
PMID:4025385
PMID:4386970
PMID:8530013
PMID:9222968
PMID:11704759
PMID:11992261
PMID:12634870
PMID:12717436
PMID:12960218
PMID:14974085
PMID:14982869
PMID:15723289
PMID:15834506
PMID:15985475
PMID:16263833
PMID:16358218
PMID:16377799
PMID:16523510
PMID:17056636
PMID:17222357
PMID:18372317
PMID:19077116
PMID:19206169
PMID:19467855
PMID:21396583
PMID:21407260
PMID:21500339
PMID:21533187
PMID:21784453
PMID:22488759
PMID:23891399
PMID:24037001
PMID:24183200
PMID:26249544
PMID:26297936
PMID:27521173
PMID:27619028
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112473031A>G , CM000674.2:g.112473031A>G | GRCh38 |
| NC_000012.11:g.112910835A>G , CM000674.1:g.112910835A>G | GRCh37 |
| NC_000012.10:g.111395218A>G | NCBI36 |
| NG_007459.1:g.59300A>G , LRG_614:g.59300A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.844A>G | ENSP00000491593.2:p.Ile282Val | |
| ENST00000685487.1:c.844A>G | ENSP00000508503.1:p.Ile282Val | |
| ENST00000687906.1:c.730A>G | ENSP00000509536.1:p.Ile244Val | |
| ENST00000688597.1:c.844A>G | ENSP00000510628.1:p.Ile282Val | |
| ENST00000690210.1:c.844A>G | ENSP00000509272.1:p.Ile282Val | |
| ENST00000692624.1:c.844A>G | ENSP00000508953.1:p.Ile282Val | |
| ENST00000351677.7:c.844A>G MANE Select | ENSP00000340944.3:p.Ile282Val | |
| ENST00000351677.6:c.844A>G | ENSP00000340944.2:p.Ile282Val | |
| ENST00000392597.5:c.844A>G | ENSP00000376376.1:p.Ile282Val | |
| ENST00000635625.1:c.844A>G | ENSP00000489597.1:p.Ile282Val | |
| NM_002834.3:c.844A>G , LRG_614t1:c.844A>G | NP_002825.3:p.Ile282Val | |
| NM_080601.1:c.844A>G | NP_542168.1:p.Ile282Val | |
| XM_006719526.1:c.844A>G | XP_006719589.1:p.Ile282Val | |
| XM_006719527.1:c.730A>G | XP_006719590.1:p.Ile244Val | |
| XM_011538613.1:c.841A>G | XP_011536915.1:p.Ile281Val | |
| NM_001330437.1:c.844A>G | NP_001317366.1:p.Ile282Val | |
| NM_002834.4:c.844A>G | NP_002825.3:p.Ile282Val | |
| NM_080601.2:c.844A>G | NP_542168.1:p.Ile282Val | |
| XM_011538613.2:c.841A>G | XP_011536915.1:p.Ile281Val | |
| XM_017019722.1:c.841A>G | XP_016875211.1:p.Ile281Val | |
| NM_001330437.2:c.844A>G | NP_001317366.1:p.Ile282Val | |
| NM_001374625.1:c.841A>G | NP_001361554.1:p.Ile281Val | |
| NM_002834.5:c.844A>G MANE Select | NP_002825.3:p.Ile282Val | |
| NM_080601.3:c.844A>G | NP_542168.1:p.Ile282Val |