Linked Data
ClinVar Variation Id:
50353
ClinVar RCV Id:
RCV000043508
dbSNP Id:
rs587776960
ExAC:
18:43667165 G / A
gnomAD v2:
18-43667165-G-A
gnomAD v3:
18-46087199-G-A
gnomAD v4:
18-46087199-G-A
PubMed:
PMID:23599390
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46087199G>A , CM000680.2:g.46087199G>A | GRCh38 |
| NC_000018.9:g.43667165G>A , CM000680.1:g.43667165G>A | GRCh37 |
| NC_000018.8:g.41921163G>A | NCBI36 |
| NG_041769.1:g.22035C>T | |
| NG_041769.2:g.27035C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398752.11:c.985C>T MANE Select | ENSP00000381736.5:p.Arg329Cys | |
| ENST00000282050.6:c.985C>T | ENSP00000282050.2:p.Arg329Cys | |
| ENST00000398752.10:c.985C>T | ENSP00000381736.5:p.Arg329Cys | |
| ENST00000586523.1:n.1498C>T | ||
| ENST00000586592.5:c.*1048C>T | ENSP00000466275.3:n.*1048C>T | |
| ENST00000590156.5:c.*881C>T | ENSP00000466309.1:n.*881C>T | |
| ENST00000590665.5:c.919C>T | ENSP00000467037.1:p.Arg307Cys | |
| ENST00000592364.5:c.227-135C>T | ENSP00000468618.1:n.227-135C>T | |
| ENST00000593152.6:c.835C>T | ENSP00000465477.2:p.Arg279Cys | |
| NM_001001935.2:c.835C>T | NP_001001935.1:p.Arg279Cys | |
| NM_001001937.1:c.985C>T | NP_001001937.1:p.Arg329Cys | |
| NM_001257334.1:c.919C>T | NP_001244263.1:p.Arg307Cys | |
| NM_001257335.1:c.835C>T | NP_001244264.1:p.Arg279Cys | |
| NM_004046.5:c.985C>T | NP_004037.1:p.Arg329Cys | |
| XM_011526018.1:c.835C>T | XP_011524320.1:p.Arg279Cys | |
| XM_017025789.1:c.985C>T | XP_016881278.1:p.Arg329Cys | |
| NM_004046.6:c.985C>T MANE Select | NP_004037.1:p.Arg329Cys | |
| NM_001001935.3:c.835C>T | NP_001001935.1:p.Arg279Cys | |
| NM_001257334.2:c.919C>T | NP_001244263.1:p.Arg307Cys | |
| NM_001001937.2:c.985C>T | NP_001001937.1:p.Arg329Cys | |
| NM_001257335.2:c.835C>T | NP_001244264.1:p.Arg279Cys |