Linked Data
ClinVar Variation Id:
14036
ClinVar RCV Id:
RCV000015081
dbSNP Id:
rs137852821
PubMed:
PMID:9207799
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96399020C>T , CM000667.2:g.96399020C>T | GRCh38 |
| NC_000005.9:g.95734724C>T , CM000667.1:g.95734724C>T | GRCh37 |
| NC_000005.8:g.95760480C>T | NCBI36 |
| NG_021161.1:g.39262G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311106.8:c.1447G>A MANE Select | ENSP00000308024.2:p.Gly483Arg | |
| ENST00000311106.7:c.1447G>A | ENSP00000308024.2:p.Gly483Arg | |
| ENST00000508626.5:c.1306G>A | ENSP00000421600.1:p.Gly436Arg | |
| ENST00000513085.1:n.590G>A | ||
| NM_000439.4:c.1447G>A | NP_000430.3:p.Gly483Arg | |
| NM_001177875.1:c.1306G>A | NP_001171346.1:p.Gly436Arg | |
| NR_130776.1:n.354+19368C>T | ||
| NM_000439.5:c.1447G>A MANE Select | NP_000430.3:p.Gly483Arg | |
| NM_001177875.2:c.1306G>A | NP_001171346.1:p.Gly436Arg |