Linked Data
ClinVar Variation Id:
40562
ClinVar RCV Id:
RCV000033549
RCV000077853
RCV000156983
RCV000677652
RCV000762887
RCV001027841
RCV002390132
RCV003991572
RCV004532496
dbSNP Id:
rs397507547
gnomAD v2:
12-112926890-A-G
gnomAD v4:
12-112489086-A-G
COSMIC:
COSM4603683
ERepo:
CA220140/MONDO:0018997/004
PubMed:
PMID:1258892
PMID:1543375
PMID:4025385
PMID:4386970
PMID:8530013
PMID:9222968
PMID:11704759
PMID:11992261
PMID:12161469
PMID:12717436
PMID:12960218
PMID:15723289
PMID:15834506
PMID:15956085
PMID:16358218
PMID:16377799
PMID:16523510
PMID:16924159
PMID:17020470
PMID:17056636
PMID:17143285
PMID:17222357
PMID:17339163
PMID:17546245
PMID:17661820
PMID:18331608
PMID:18678287
PMID:19020799
PMID:19077116
PMID:19206169
PMID:19467855
PMID:21396583
PMID:21407260
PMID:21500339
PMID:21533187
PMID:25862627
PMID:26249544
PMID:26297936
PMID:26607044
PMID:26817465
PMID:27521173
PMID:27619028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489086A>G , CM000674.2:g.112489086A>G | GRCh38 |
| NC_000012.11:g.112926890A>G , CM000674.1:g.112926890A>G | GRCh37 |
| NC_000012.10:g.111411273A>G | NCBI36 |
| NG_007459.1:g.75355A>G , LRG_614:g.75355A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1510A>G | ENSP00000491593.2:p.Met504Val | |
| ENST00000685487.1:c.1510A>G | ENSP00000508503.1:p.Met504Val | |
| ENST00000687624.1:n.175A>G | ||
| ENST00000687906.1:c.1396A>G | ENSP00000509536.1:p.Met466Val | |
| ENST00000688597.1:c.1224+6881A>G | ENSP00000510628.1:n.1224+6881A>G | |
| ENST00000688701.1:n.754A>G | ||
| ENST00000690210.1:c.1510A>G | ENSP00000509272.1:p.Met504Val | |
| ENST00000690472.1:n.719A>G | ||
| ENST00000692624.1:c.*56A>G | ENSP00000508953.1:n.*56A>G | |
| ENST00000351677.7:c.1510A>G MANE Select | ENSP00000340944.3:p.Met504Val | |
| ENST00000351677.6:c.1510A>G | ENSP00000340944.2:p.Met504Val | |
| ENST00000635625.1:c.1522A>G | ENSP00000489597.1:p.Met508Val | |
| ENST00000635652.1:c.523A>G | ENSP00000489541.1:p.Met175Val | |
| NM_002834.3:c.1510A>G , LRG_614t1:c.1510A>G | NP_002825.3:p.Met504Val | |
| XM_006719526.1:c.1522A>G | XP_006719589.1:p.Met508Val | |
| XM_006719527.1:c.1408A>G | XP_006719590.1:p.Met470Val | |
| XM_011538613.1:c.1519A>G | XP_011536915.1:p.Met507Val | |
| NM_001330437.1:c.1522A>G | NP_001317366.1:p.Met508Val | |
| NM_002834.4:c.1510A>G | NP_002825.3:p.Met504Val | |
| XM_011538613.2:c.1519A>G | XP_011536915.1:p.Met507Val | |
| XM_017019722.1:c.1507A>G | XP_016875211.1:p.Met503Val | |
| NM_001330437.2:c.1522A>G | NP_001317366.1:p.Met508Val | |
| NM_001374625.1:c.1507A>G | NP_001361554.1:p.Met503Val | |
| NM_002834.5:c.1510A>G MANE Select | NP_002825.3:p.Met504Val |