Linked Data
ClinVar Variation Id:
60524
ClinVar RCV Id:
RCV000054420
dbSNP Id:
rs398122382
ExAC:
12:58023965 G / A
gnomAD v2:
12-58023965-G-A
gnomAD v3:
12-57630182-G-A
gnomAD v4:
12-57630182-G-A
PubMed:
PMID:23746551
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57630182G>A , CM000674.2:g.57630182G>A | GRCh38 |
| NC_000012.11:g.58023965G>A , CM000674.1:g.58023965G>A | GRCh37 |
| NC_000012.10:g.56310232G>A | NCBI36 |
| NG_033849.1:g.8058C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341156.9:c.682C>T MANE Select | ENSP00000341562.4:p.Arg228Ter | |
| ENST00000341156.8:c.682C>T | ENSP00000341562.4:p.Arg228Ter | |
| ENST00000418555.6:c.517C>T | ENSP00000401601.2:p.Arg173Ter | |
| ENST00000449184.7:c.682C>T | ENSP00000473533.1:p.Arg228Ter | |
| ENST00000548888.5:c.682C>T | ENSP00000447945.1:p.Arg228Ter | |
| ENST00000549391.5:c.300C>T | ||
| ENST00000550764.5:c.682C>T | ENSP00000450303.1:p.Arg228Ter | |
| ENST00000552350.5:c.682C>T | ENSP00000448500.1:p.Arg228Ter | |
| ENST00000552798.5:c.641C>T | ENSP00000447076.1:p.Pro214Leu | |
| ENST00000553142.5:n.1063C>T | ||
| NM_001276468.1:c.517C>T | NP_001263397.1:p.Arg173Ter | |
| NM_001276469.1:c.682C>T | NP_001263398.1:p.Arg228Ter | |
| NM_001478.4:c.682C>T | NP_001469.1:p.Arg228Ter | |
| XM_005268773.3:c.682C>T | XP_005268830.1:p.Arg228Ter | |
| XM_011538147.1:c.682C>T | XP_011536449.1:p.Arg228Ter | |
| XM_011538148.1:c.682C>T | XP_011536450.1:p.Arg228Ter | |
| XM_005268773.5:c.682C>T | XP_005268830.1:p.Arg228Ter | |
| XM_011538147.3:c.682C>T | XP_011536449.1:p.Arg228Ter | |
| XM_017019140.2:c.682C>T | XP_016874629.1:p.Arg228Ter | |
| XM_017019141.1:c.682C>T | XP_016874630.1:p.Arg228Ter | |
| XM_017019142.1:c.682C>T | XP_016874631.1:p.Arg228Ter | |
| XM_024448928.1:c.682C>T | XP_024304696.1:p.Arg228Ter | |
| XM_024448929.1:c.-1014C>T | XP_024304697.1:n.-1014C>T | |
| XR_002957307.1:n.683C>T | ||
| NM_001478.5:c.682C>T MANE Select | NP_001469.1:p.Arg228Ter | |
| NM_001276468.2:c.517C>T | NP_001263397.1:p.Arg173Ter | |
| NM_001276469.2:c.682C>T | NP_001263398.1:p.Arg228Ter |