Linked Data
ClinVar Variation Id:
13946
dbSNP Id:
rs79658334
ExAC:
10:43614996 G / T
gnomAD v2:
10-43614996-G-T
gnomAD v3:
10-43119548-G-T
gnomAD v4:
10-43119548-G-T
PubMed:
PMID:7
PMID:92
PMID:119
PMID:323
PMID:784
PMID:3697657
PMID:7784092
PMID:8797874
PMID:9242375
PMID:9398735
PMID:9452077
PMID:10445857
PMID:11589684
PMID:11788682
PMID:11932300
PMID:12694233
PMID:15741265
PMID:16532227
PMID:16712668
PMID:20087666
PMID:23891399
PMID:24361808
PMID:25637381
PMID:26269449
CIViC:
CA008766
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43119548G>T , CM000672.2:g.43119548G>T | GRCh38 |
| NC_000010.10:g.43614996G>T , CM000672.1:g.43614996G>T | GRCh37 |
| NC_000010.9:g.42935002G>T | NCBI36 |
| NG_007489.1:g.47480G>T , LRG_518:g.47480G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2014G>T | ENSP00000480088.2:p.Val672Leu | |
| ENST00000683007.1:n.1984G>T | ||
| ENST00000683872.1:n.1975G>T | ||
| ENST00000340058.6:c.2410G>T | ENSP00000344798.4:p.Val804Leu | |
| ENST00000355710.8:c.2410G>T MANE Select | ENSP00000347942.3:p.Val804Leu | |
| ENST00000671844.1:c.*1004G>T | ENSP00000500541.1:n.*1004G>T | |
| ENST00000672389.1:c.*1004G>T | ENSP00000500252.1:n.*1004G>T | |
| ENST00000340058.5:c.2410G>T | ENSP00000344798.4:p.Val804Leu | |
| ENST00000355710.7:c.2410G>T | ENSP00000347942.3:p.Val804Leu | |
| ENST00000615310.4:c.1290-154G>T | ENSP00000480088.1:n.1290-154G>T | |
| NM_020630.4:c.2410G>T , LRG_518t2:c.2410G>T | NP_065681.1:p.Val804Leu | |
| NM_020975.4:c.2410G>T , LRG_518t1:c.2410G>T | NP_066124.1:p.Val804Leu | |
| XM_011540027.1:c.2410G>T | XP_011538329.1:p.Val804Leu | |
| NM_001355216.1:c.1648G>T | NP_001342145.1:p.Val550Leu | |
| NM_020630.5:c.2410G>T | NP_065681.1:p.Val804Leu | |
| NM_020975.5:c.2410G>T | NP_066124.1:p.Val804Leu | |
| NM_020975.6:c.2410G>T MANE Select | NP_066124.1:p.Val804Leu | |
| NM_020630.6:c.2410G>T | NP_065681.1:p.Val804Leu |