Linked Data
ClinVar Variation Id:
41841
dbSNP Id:
rs201101792
gnomAD v2:
10-43615129-T-A
gnomAD v3:
10-43119681-T-A
gnomAD v4:
10-43119681-T-A
PubMed:
PMID:22703879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43119681T>A , CM000672.2:g.43119681T>A | GRCh38 |
| NC_000010.10:g.43615129T>A , CM000672.1:g.43615129T>A | GRCh37 |
| NC_000010.9:g.42935135T>A | NCBI36 |
| NG_007489.1:g.47613T>A , LRG_518:g.47613T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2147T>A | ENSP00000480088.2:p.Met716Lys | |
| ENST00000683007.1:n.2117T>A | ||
| ENST00000683872.1:n.2108T>A | ||
| ENST00000340058.6:c.2543T>A | ENSP00000344798.4:p.Met848Lys | |
| ENST00000355710.8:c.2543T>A MANE Select | ENSP00000347942.3:p.Met848Lys | |
| ENST00000671844.1:c.*1137T>A | ENSP00000500541.1:n.*1137T>A | |
| ENST00000672389.1:c.*1137T>A | ENSP00000500252.1:n.*1137T>A | |
| ENST00000340058.5:c.2543T>A | ENSP00000344798.4:p.Met848Lys | |
| ENST00000355710.7:c.2543T>A | ENSP00000347942.3:p.Met848Lys | |
| ENST00000615310.4:c.1290-21T>A | ENSP00000480088.1:n.1290-21T>A | |
| NM_020630.4:c.2543T>A , LRG_518t2:c.2543T>A | NP_065681.1:p.Met848Lys | |
| NM_020975.4:c.2543T>A , LRG_518t1:c.2543T>A | NP_066124.1:p.Met848Lys | |
| XM_011540027.1:c.2543T>A | XP_011538329.1:p.Met848Lys | |
| NM_001355216.1:c.1781T>A | NP_001342145.1:p.Met594Lys | |
| NM_020630.5:c.2543T>A | NP_065681.1:p.Met848Lys | |
| NM_020975.5:c.2543T>A | NP_066124.1:p.Met848Lys | |
| NM_020975.6:c.2543T>A MANE Select | NP_066124.1:p.Met848Lys | |
| NM_020630.6:c.2543T>A | NP_065681.1:p.Met848Lys |