Linked Data
ClinVar Variation Id:
2362143
ClinVar RCV Id:
RCV004199183
dbSNP Id:
rs1031096709
gnomAD v2:
7-76141196-A-G
gnomAD v3:
7-76511879-A-G
gnomAD v4:
7-76511879-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76511879A>G , CM000669.2:g.76511879A>G | GRCh38 |
| NC_000007.13:g.76141196A>G , CM000669.1:g.76141196A>G | GRCh37 |
| NC_000007.12:g.75979132A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334348.8:c.458A>G MANE Select | ENSP00000334938.3:p.Tyr153Cys | |
| ENST00000257632.9:c.623A>G | ENSP00000257632.5:p.Tyr208Cys | |
| ENST00000334348.7:c.458A>G | ENSP00000334938.3:p.Tyr153Cys | |
| ENST00000394849.1:c.458A>G | ENSP00000378319.1:p.Tyr153Cys | |
| ENST00000469114.1:n.345A>G | ||
| ENST00000490360.1:n.521A>G | ||
| XM_005250612.2:c.623A>G | XP_005250669.1:p.Tyr208Cys | |
| XM_005250613.3:c.458A>G | XP_005250670.2:p.Tyr153Cys | |
| XM_005250614.2:c.458A>G | XP_005250671.1:p.Tyr153Cys | |
| XM_006716140.2:c.458A>G | XP_006716203.1:p.Tyr153Cys | |
| XM_006716141.2:c.458A>G | XP_006716204.1:p.Tyr153Cys | |
| NM_001347684.1:c.458A>G | NP_001334613.1:p.Tyr153Cys | |
| NM_001347684.2:c.458A>G MANE Select | NP_001334613.1:p.Tyr153Cys |