Linked Data
ClinVar Variation Id:
209007
ClinVar RCV Id:
RCV000983977
dbSNP Id:
rs777031813
ExAC:
5:54518169 G / T
gnomAD v2:
5-54518169-G-T
gnomAD v4:
5-55222341-G-T
PubMed:
PMID:20301301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55222341G>T , CM000667.2:g.55222341G>T | GRCh38 |
| NC_000005.9:g.54518169G>T , CM000667.1:g.54518169G>T | GRCh37 |
| NC_000005.8:g.54553926G>T | NCBI36 |
| NG_051620.1:g.9975C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513312.3:c.441C>A MANE Select | ENSP00000426359.1:p.Cys147Ter | |
| ENST00000513312.1:c.441C>A | ENSP00000426359.1:p.Cys147Ter | |
| ENST00000513468.5:c.445C>A | ENSP00000422165.1:p.Arg149= | |
| ENST00000515336.1:n.378C>A | ||
| NM_001190787.1:c.441C>A | NP_001177716.1:p.Cys147Ter | |
| XM_017009439.2:c.48C>A | XP_016864928.1:p.Cys16Ter | |
| NM_001190787.3:c.441C>A MANE Select | NP_001177716.1:p.Cys147Ter |