Linked Data
ClinVar Variation Id:
43366
ClinVar RCV Id:
RCV000036274
RCV000251441
RCV000300674
RCV000333044
RCV000776011
RCV001129994
RCV001135033
RCV001135034
RCV001129993
RCV001537631
dbSNP Id:
rs3729711
ExAC:
19:55667647 C / A
gnomAD v2:
19-55667647-C-A
gnomAD v3:
19-55156279-C-A
gnomAD v4:
19-55156279-C-A
PubMed:
PMID:22876777
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156279C>A , CM000681.2:g.55156279C>A | GRCh38 |
| NC_000019.9:g.55667647C>A , CM000681.1:g.55667647C>A | GRCh37 |
| NC_000019.8:g.60359459C>A | NCBI36 |
| NG_007866.2:g.6454G>T , LRG_432:g.6454G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.204G>T MANE Select | ENSP00000341838.5:p.Arg68= | |
| ENST00000665070.1:c.204G>T | ENSP00000499482.1:p.Arg68= | |
| ENST00000344887.9:c.204G>T | ENSP00000341838.5:p.Arg68= | |
| ENST00000585806.5:n.203G>T | ||
| ENST00000586669.5:n.212G>T | ||
| ENST00000586858.1:c.167G>T | ENSP00000465258.1:p.Gly56Val | |
| ENST00000587176.5:n.388G>T | ||
| ENST00000587871.1:c.823G>T | ||
| ENST00000588882.1:c.129G>T | ENSP00000466729.1:p.Arg43= | |
| ENST00000590463.1:n.376G>T | ||
| NM_000363.4:c.204G>T , LRG_432t1:c.204G>T | NP_000354.4:p.Arg68= | |
| NM_000363.5:c.204G>T MANE Select | NP_000354.4:p.Arg68= |