Linked Data
ClinVar Variation Id:
5791
ClinVar RCV Id:
RCV002512820
dbSNP Id:
rs121908487
ExAC:
19:33353033 T / C
gnomAD v2:
19-33353033-T-C
gnomAD v3:
19-32862127-T-C
gnomAD v4:
19-32862127-T-C
PubMed:
PMID:15635077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32862127T>C , CM000681.2:g.32862127T>C | GRCh38 |
| NC_000019.9:g.33353033T>C , CM000681.1:g.33353033T>C | GRCh37 |
| NC_000019.8:g.38044873T>C | NCBI36 |
| NG_008258.1:g.12651A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000023064.9:c.695A>G MANE Select | ENSP00000023064.3:p.Tyr232Cys | |
| ENST00000023064.8:c.695A>G | ENSP00000023064.3:p.Tyr232Cys | |
| ENST00000587772.1:c.695A>G | ENSP00000468439.1:p.Tyr232Cys | |
| ENST00000589659.1:n.640A>G | ||
| ENST00000590341.5:c.695A>G | ENSP00000464822.1:p.Tyr232Cys | |
| ENST00000590465.5:c.*211-1477A>G | ENSP00000468076.1:n.*211-1477A>G | |
| ENST00000592232.5:c.*211-1477A>G | ENSP00000465563.1:n.*211-1477A>G | |
| NM_001126335.1:c.695A>G | NP_001119807.1:p.Tyr232Cys | |
| NM_001243036.1:c.695A>G | NP_001229965.1:p.Tyr232Cys | |
| NM_014270.4:c.695A>G | NP_055085.1:p.Tyr232Cys | |
| XM_006722992.1:c.24-1477A>G | XP_006723055.1:n.24-1477A>G | |
| XM_011526402.1:c.695A>G | XP_011524704.1:p.Tyr232Cys | |
| XM_011526402.3:c.695A>G | XP_011524704.1:p.Tyr232Cys | |
| XM_017026230.1:c.431A>G | XP_016881719.1:p.Tyr144Cys | |
| XM_024451334.1:c.-564-1477A>G | XP_024307102.1:n.-564-1477A>G | |
| NM_014270.5:c.695A>G MANE Select | NP_055085.1:p.Tyr232Cys | |
| NM_001126335.2:c.695A>G | NP_001119807.1:p.Tyr232Cys | |
| NM_001243036.2:c.695A>G | NP_001229965.1:p.Tyr232Cys |