Linked Data
ClinVar Variation Id:
134950
dbSNP Id:
rs587778571
ExAC:
9:139391655 C / T
gnomAD v2:
9-139391655-C-T
gnomAD v4:
9-136497203-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497203C>T , CM000671.2:g.136497203C>T | GRCh38 |
| NC_000009.11:g.139391655C>T , CM000671.1:g.139391655C>T | GRCh37 |
| NC_000009.10:g.138511476C>T | NCBI36 |
| NG_007458.1:g.53584G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6536G>A MANE Select | ENSP00000498587.1:p.Arg2179Gln | |
| ENST00000679595.1:c.*1576G>A | ENSP00000506241.1:n.*1576G>A | |
| ENST00000679969.1:n.3132G>A | ||
| ENST00000680003.1:n.2868G>A | ||
| ENST00000680133.1:c.6422G>A | ENSP00000505319.1:p.Arg2141Gln | |
| ENST00000680218.1:c.6416G>A | ENSP00000505339.1:p.Arg2139Gln | |
| ENST00000680668.1:c.6422G>A | ENSP00000506336.1:p.Arg2141Gln | |
| ENST00000680778.1:c.4133G>A | ENSP00000506033.1:p.Arg1378Gln | |
| ENST00000680924.1:c.*3936G>A | ENSP00000506031.1:n.*3936G>A | |
| ENST00000681135.1:c.*4145G>A | ENSP00000506636.1:n.*4145G>A | |
| ENST00000681298.1:n.4641G>A | ||
| ENST00000681454.1:c.*5772G>A | ENSP00000505763.1:n.*5772G>A | |
| ENST00000277541.6:c.6536G>A | ENSP00000277541.6:p.Arg2179Gln | |
| NM_017617.3:c.6536G>A | NP_060087.3:p.Arg2179Gln | |
| XM_011518717.1:c.5837G>A | XP_011517019.1:p.Arg1946Gln | |
| NM_017617.5:c.6536G>A MANE Select | NP_060087.3:p.Arg2179Gln | |
| XM_011518717.2:c.5813G>A | XP_011517019.2:p.Arg1938Gln |