Linked Data
ClinVar Variation Id:
372079
dbSNP Id:
rs137855422
ExAC:
10:43610164 G / A
gnomAD v2:
10-43610164-G-A
gnomAD v3:
10-43114716-G-A
gnomAD v4:
10-43114716-G-A
PubMed:
PMID:24336963
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114716G>A , CM000672.2:g.43114716G>A | GRCh38 |
| NC_000010.10:g.43610164G>A , CM000672.1:g.43610164G>A | GRCh37 |
| NC_000010.9:g.42930170G>A | NCBI36 |
| NG_007489.1:g.42648G>A , LRG_518:g.42648G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1720G>A | ENSP00000480088.2:p.Val574Met | |
| ENST00000683007.1:n.1690G>A | ||
| ENST00000683872.1:n.1681G>A | ||
| ENST00000340058.6:c.2116G>A | ENSP00000344798.4:p.Val706Met | |
| ENST00000355710.8:c.2116G>A MANE Select | ENSP00000347942.3:p.Val706Met | |
| ENST00000671844.1:c.*710G>A | ENSP00000500541.1:n.*710G>A | |
| ENST00000672389.1:c.*710G>A | ENSP00000500252.1:n.*710G>A | |
| ENST00000340058.5:c.2116G>A | ENSP00000344798.4:p.Val706Met | |
| ENST00000355710.7:c.2116G>A | ENSP00000347942.3:p.Val706Met | |
| ENST00000615310.4:c.1289+3484G>A | ENSP00000480088.1:n.1289+3484G>A | |
| NM_020630.4:c.2116G>A , LRG_518t2:c.2116G>A | NP_065681.1:p.Val706Met | |
| NM_020975.4:c.2116G>A , LRG_518t1:c.2116G>A | NP_066124.1:p.Val706Met | |
| XM_011540027.1:c.2116G>A | XP_011538329.1:p.Val706Met | |
| NM_001355216.1:c.1354G>A | NP_001342145.1:p.Val452Met | |
| NM_020630.5:c.2116G>A | NP_065681.1:p.Val706Met | |
| NM_020975.5:c.2116G>A | NP_066124.1:p.Val706Met | |
| NM_020975.6:c.2116G>A MANE Select | NP_066124.1:p.Val706Met | |
| NM_020630.6:c.2116G>A | NP_065681.1:p.Val706Met |