Linked Data
ClinVar Variation Id:
13919
ClinVar RCV Id:
RCV000014941
RCV000014942
RCV000014943
RCV000082054
RCV000161926
RCV000175096
RCV000415312
RCV000417859
RCV000425499
RCV000428538
RCV000444529
RCV000999916
RCV001266480
RCV001292662
RCV001542764
RCV002255998
dbSNP Id:
rs74799832
gnomAD v2:
10-43617416-T-C
PubMed:
PMID:1
PMID:68
PMID:79
PMID:171
PMID:200
PMID:416
PMID:550
PMID:553
PMID:661
PMID:705
PMID:784
PMID:826
PMID:2660074
PMID:3078962
PMID:7536460
PMID:7824936
PMID:7845675
PMID:7906417
PMID:7906866
PMID:7911697
PMID:7977365
PMID:8570194
PMID:8782503
PMID:8918855
PMID:9242375
PMID:9620546
PMID:9681850
PMID:9839497
PMID:10679286
PMID:11351254
PMID:15531714
PMID:18073307
PMID:18252215
PMID:18541894
PMID:19255327
PMID:20065189
PMID:20368568
PMID:20847059
PMID:21422803
PMID:21455200
PMID:21470995
PMID:21810974
PMID:22025146
PMID:23056499
PMID:23757202
PMID:23891399
PMID:25157968
CIViC:
CA009082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43121968T>C , CM000672.2:g.43121968T>C | GRCh38 |
| NC_000010.10:g.43617416T>C , CM000672.1:g.43617416T>C | GRCh37 |
| NC_000010.9:g.42937422T>C | NCBI36 |
| NG_007489.1:g.49900T>C , LRG_518:g.49900T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615310.5:c.2357T>C | ENSP00000480088.2:p.Met786Thr | |
| ENST00000683007.1:n.2327T>C | ||
| ENST00000340058.6:c.2753T>C | ENSP00000344798.4:p.Met918Thr | |
| ENST00000355710.8:c.2753T>C MANE Select | ENSP00000347942.3:p.Met918Thr | |
| ENST00000671844.1:c.*1347T>C | ENSP00000500541.1:n.*1347T>C | |
| ENST00000672389.1:c.*1347T>C | ENSP00000500252.1:n.*1347T>C | |
| ENST00000340058.5:c.2753T>C | ENSP00000344798.4:p.Met918Thr | |
| ENST00000355710.7:c.2753T>C | ENSP00000347942.3:p.Met918Thr | |
| ENST00000615310.4:c.*102T>C | ENSP00000480088.1:n.*102T>C | |
| NM_020630.4:c.2753T>C , LRG_518t2:c.2753T>C | NP_065681.1:p.Met918Thr | |
| NM_020975.4:c.2753T>C , LRG_518t1:c.2753T>C | NP_066124.1:p.Met918Thr | |
| XM_011540027.1:c.2753T>C | XP_011538329.1:p.Met918Thr | |
| NM_001355216.1:c.1991T>C | NP_001342145.1:p.Met664Thr | |
| NM_020630.5:c.2753T>C | NP_065681.1:p.Met918Thr | |
| NM_020975.5:c.2753T>C | NP_066124.1:p.Met918Thr | |
| NM_020975.6:c.2753T>C MANE Select | NP_066124.1:p.Met918Thr | |
| NM_020630.6:c.2753T>C | NP_065681.1:p.Met918Thr |