Linked Data
ClinVar Variation Id:
3627
ClinVar RCV Id:
RCV001701559
dbSNP Id:
rs78950939
ExAC:
17:56356914 T / C
gnomAD v2:
17-56356914-T-C
gnomAD v3:
17-58279553-T-C
gnomAD v4:
17-58279553-T-C
PubMed:
PMID:9637725
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58279553T>C , CM000679.2:g.58279553T>C | GRCh38 |
| NC_000017.10:g.56356914T>C , CM000679.1:g.56356914T>C | GRCh37 |
| NC_000017.9:g.53711913T>C | NCBI36 |
| NG_009629.1:g.6383A>G , LRG_84:g.6383A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225275.4:c.518A>G MANE Select | ENSP00000225275.3:p.Tyr173Cys | |
| ENST00000225275.3:c.518A>G | ENSP00000225275.3:p.Tyr173Cys | |
| NM_000250.1:c.518A>G , LRG_84t1:c.518A>G | NP_000241.1:p.Tyr173Cys | |
| XM_011524821.1:c.704A>G | XP_011523123.1:p.Tyr235Cys | |
| XM_011524822.1:c.233A>G | XP_011523124.1:p.Tyr78Cys | |
| XM_011524823.1:c.704A>G | XP_011523125.1:p.Tyr235Cys | |
| NM_000250.2:c.518A>G MANE Select | NP_000241.1:p.Tyr173Cys |