Linked Data
ClinVar Variation Id:
16746
dbSNP Id:
rs28931611
gnomAD v2:
19-853019-T-C
gnomAD v4:
19-853019-T-C
PubMed:
PMID:11675333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.853019T>C , CM000681.2:g.853019T>C | GRCh38 |
| NC_000019.9:g.853019T>C , CM000681.1:g.853019T>C | GRCh37 |
| NC_000019.8:g.804019T>C | NCBI36 |
| NG_009627.1:g.5729T>C , LRG_57:g.5729T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263621.2:c.211T>C MANE Select | ENSP00000263621.1:p.Cys71Arg | |
| ENST00000263621.1:c.211T>C | ENSP00000263621.1:p.Cys71Arg | |
| ENST00000590230.5:c.211T>C | ENSP00000466090.1:p.Cys71Arg | |
| NM_001972.2:c.211T>C , LRG_57t1:c.211T>C | NP_001963.1:p.Cys71Arg | |
| XM_011527775.1:c.211T>C | XP_011526077.1:p.Cys71Arg | |
| XM_011527776.1:c.211T>C | XP_011526078.1:p.Cys71Arg | |
| NM_001972.3:c.211T>C | NP_001963.1:p.Cys71Arg | |
| NM_001972.4:c.211T>C MANE Select | NP_001963.1:p.Cys71Arg |