Linked Data
ClinVar Variation Id:
13331
ClinVar RCV Id:
RCV000033533
RCV000055884
RCV000077851
RCV000106323
RCV000157014
RCV000208002
RCV000515406
RCV000723326
RCV000853462
RCV001813197
RCV002390104
dbSNP Id:
rs121918457
ExAC:
12:112926270 C / T
gnomAD v2:
12-112926270-C-T
gnomAD v3:
12-112488466-C-T
gnomAD v4:
12-112488466-C-T
COSMIC:
COSM170715
ERepo:
CA220134/MONDO:0007893/004
PubMed:
PMID:1258892
PMID:1543375
PMID:4025385
PMID:4386970
PMID:8530013
PMID:9222968
PMID:11704759
PMID:12058348
PMID:12960218
PMID:15520399
PMID:16338218
PMID:16358218
PMID:16377799
PMID:16523510
PMID:16638574
PMID:17056636
PMID:17222357
PMID:17935252
PMID:18372317
PMID:18373317
PMID:18849586
PMID:19054014
PMID:19133693
PMID:19174044
PMID:19206169
PMID:19467855
PMID:20301557
PMID:20308328
PMID:20493809
PMID:20535210
PMID:20883402
PMID:21396583
PMID:21500339
PMID:21533187
PMID:22555271
PMID:22585553
PMID:22681964
PMID:24767283
PMID:24935154
PMID:25884655
PMID:26249544
PMID:26297936
PMID:27521173
PMID:27619028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112488466C>T , CM000674.2:g.112488466C>T | GRCh38 |
| NC_000012.11:g.112926270C>T , CM000674.1:g.112926270C>T | GRCh37 |
| NC_000012.10:g.111410653C>T | NCBI36 |
| NG_007459.1:g.74735C>T , LRG_614:g.74735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1403C>T | ENSP00000491593.2:p.Thr468Met | |
| ENST00000685487.1:c.1403C>T | ENSP00000508503.1:p.Thr468Met | |
| ENST00000687624.1:n.68C>T | ||
| ENST00000687906.1:c.1289C>T | ENSP00000509536.1:p.Thr430Met | |
| ENST00000688597.1:c.1224+6261C>T | ENSP00000510628.1:n.1224+6261C>T | |
| ENST00000688701.1:n.647C>T | ||
| ENST00000690210.1:c.1403C>T | ENSP00000509272.1:p.Thr468Met | |
| ENST00000690472.1:n.612C>T | ||
| ENST00000692624.1:c.1380-558C>T | ENSP00000508953.1:n.1380-558C>T | |
| ENST00000351677.7:c.1403C>T MANE Select | ENSP00000340944.3:p.Thr468Met | |
| ENST00000351677.6:c.1403C>T | ENSP00000340944.2:p.Thr468Met | |
| ENST00000635625.1:c.1415C>T | ENSP00000489597.1:p.Thr472Met | |
| ENST00000635652.1:c.416C>T | ENSP00000489541.1:p.Thr139Met | |
| NM_002834.3:c.1403C>T , LRG_614t1:c.1403C>T | NP_002825.3:p.Thr468Met | |
| XM_006719526.1:c.1415C>T | XP_006719589.1:p.Thr472Met | |
| XM_006719527.1:c.1301C>T | XP_006719590.1:p.Thr434Met | |
| XM_011538613.1:c.1412C>T | XP_011536915.1:p.Thr471Met | |
| NM_001330437.1:c.1415C>T | NP_001317366.1:p.Thr472Met | |
| NM_002834.4:c.1403C>T | NP_002825.3:p.Thr468Met | |
| XM_011538613.2:c.1412C>T | XP_011536915.1:p.Thr471Met | |
| XM_017019722.1:c.1400C>T | XP_016875211.1:p.Thr467Met | |
| NM_001330437.2:c.1415C>T | NP_001317366.1:p.Thr472Met | |
| NM_001374625.1:c.1400C>T | NP_001361554.1:p.Thr467Met | |
| NM_002834.5:c.1403C>T MANE Select | NP_002825.3:p.Thr468Met |