Linked Data
ClinVar Variation Id:
542669
dbSNP Id:
rs201765587
ExAC:
16:14721018 T / C
gnomAD v2:
16-14721018-T-C
gnomAD v3:
16-14627161-T-C
gnomAD v4:
16-14627161-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.14627161T>C , CM000678.2:g.14627161T>C | GRCh38 |
| NC_000016.9:g.14721018T>C , CM000678.1:g.14721018T>C | GRCh37 |
| NC_000016.8:g.14628519T>C | NCBI36 |
| NG_042871.1:g.8111A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697472.1:n.418A>G | ||
| ENST00000697473.1:n.397A>G | ||
| ENST00000697474.1:c.272A>G | ENSP00000513329.1:p.Tyr91Cys | |
| ENST00000697475.1:n.427A>G | ||
| ENST00000697476.1:n.405A>G | ||
| ENST00000697477.1:n.407A>G | ||
| ENST00000437198.7:c.272A>G MANE Select | ENSP00000387911.2:p.Tyr91Cys | |
| ENST00000563641.6:c.*6A>G | ENSP00000458103.1:n.*6A>G | |
| ENST00000564113.6:n.382A>G | ||
| ENST00000650960.1:c.272A>G | ENSP00000499110.1:p.Tyr91Cys | |
| ENST00000650990.1:c.272A>G | ENSP00000498741.1:p.Tyr91Cys | |
| ENST00000651027.1:c.272A>G | ENSP00000498640.1:p.Tyr91Cys | |
| ENST00000651049.1:c.272A>G | ENSP00000498644.1:p.Tyr91Cys | |
| ENST00000651241.1:n.1298A>G | ||
| ENST00000651300.1:c.*166A>G | ENSP00000498294.1:n.*166A>G | |
| ENST00000651348.1:c.272A>G | ENSP00000498315.1:p.Tyr91Cys | |
| ENST00000651634.1:c.272A>G | ENSP00000499078.1:p.Tyr91Cys | |
| ENST00000651760.1:c.72A>G | ||
| ENST00000651865.1:c.177+1011A>G | ENSP00000498567.1:n.177+1011A>G | |
| ENST00000651913.1:c.222A>G | ||
| ENST00000652051.1:c.272A>G | ENSP00000498898.1:p.Tyr91Cys | |
| ENST00000652411.1:n.429A>G | ||
| ENST00000652501.1:c.272A>G | ENSP00000498261.1:p.Tyr91Cys | |
| ENST00000652541.1:c.*6A>G | ENSP00000499206.1:n.*6A>G | |
| ENST00000652727.1:c.272A>G | ENSP00000498650.1:p.Tyr91Cys | |
| ENST00000341484.11:c.89A>G | ENSP00000345456.7:p.Tyr30Cys | |
| ENST00000420015.6:c.159-25A>G | ENSP00000410525.2:n.159-25A>G | |
| ENST00000437198.6:c.272A>G | ENSP00000387911.2:p.Tyr91Cys | |
| ENST00000538472.5:c.246-25A>G | ENSP00000445659.1:n.246-25A>G | |
| ENST00000539279.5:c.177+1011A>G | ENSP00000444381.1:n.177+1011A>G | |
| ENST00000563641.5:c.*6A>G | ENSP00000458103.1:n.*6A>G | |
| ENST00000566021.1:n.398A>G | ||
| NM_001134477.2:c.89A>G | NP_001127949.1:p.Tyr30Cys | |
| NM_001242992.1:c.159-25A>G | NP_001229921.1:n.159-25A>G | |
| NM_002582.3:c.272A>G | NP_002573.1:p.Tyr91Cys | |
| XM_011522510.1:c.272A>G | XP_011520812.1:p.Tyr91Cys | |
| XM_011522511.1:c.272A>G | XP_011520813.1:p.Tyr91Cys | |
| XM_011522512.1:c.272A>G | XP_011520814.1:p.Tyr91Cys | |
| XM_011522513.1:c.89A>G | XP_011520815.1:p.Tyr30Cys | |
| XM_011522514.1:c.272A>G | XP_011520816.1:p.Tyr91Cys | |
| NM_002582.4:c.272A>G MANE Select | NP_002573.1:p.Tyr91Cys | |
| XM_011522510.3:c.272A>G | XP_011520812.1:p.Tyr91Cys | |
| XM_011522511.2:c.272A>G | XP_011520813.1:p.Tyr91Cys | |
| XM_011522513.2:c.89A>G | XP_011520815.1:p.Tyr30Cys | |
| XM_011522514.2:c.272A>G | XP_011520816.1:p.Tyr91Cys | |
| XM_017023258.2:c.272A>G | XP_016878747.1:p.Tyr91Cys | |
| XM_017023259.2:c.-522A>G | XP_016878748.1:n.-522A>G | |
| XM_017023260.1:c.-461A>G | XP_016878749.1:n.-461A>G | |
| XM_024450292.1:c.-1260A>G | XP_024306060.1:n.-1260A>G | |
| XR_001751906.2:n.433A>G | ||
| XR_001751907.2:n.433A>G | ||
| NM_001134477.3:c.89A>G | NP_001127949.1:p.Tyr30Cys | |
| NM_001242992.2:c.159-25A>G | NP_001229921.1:n.159-25A>G |