Linked Data
ClinVar Variation Id:
785539
ClinVar RCV Id:
RCV000967421
dbSNP Id:
rs61733726
ExAC:
16:74921593 C / A
gnomAD v2:
16-74921593-C-A
gnomAD v3:
16-74887695-C-A
gnomAD v4:
16-74887695-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74887695C>A , CM000678.2:g.74887695C>A | GRCh38 |
| NC_000016.9:g.74921593C>A , CM000678.1:g.74921593C>A | GRCh37 |
| NC_000016.8:g.73479094C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262144.11:c.2407G>T MANE Select | ENSP00000262144.6:p.Gly803Cys | |
| ENST00000262144.10:c.2407G>T | ENSP00000262144.6:p.Gly803Cys | |
| ENST00000563797.5:c.351G>T | ||
| NM_030581.3:c.2407G>T | NP_085058.3:p.Gly803Cys | |
| XM_005256146.2:c.2464G>T | XP_005256203.1:p.Gly822Cys | |
| XM_011523331.1:c.1543G>T | XP_011521633.1:p.Gly515Cys | |
| XM_011523332.1:c.1501G>T | XP_011521634.1:p.Gly501Cys | |
| XM_011523333.1:c.1501G>T | XP_011521635.1:p.Gly501Cys | |
| XR_933430.1:n.2359G>T | ||
| XM_005256146.3:c.2464G>T | XP_005256203.1:p.Gly822Cys | |
| XM_011523332.2:c.1501G>T | XP_011521634.1:p.Gly501Cys | |
| XM_017023667.2:c.1651G>T | XP_016879156.1:p.Gly551Cys | |
| XM_017023668.2:c.1651G>T | XP_016879157.1:p.Gly551Cys | |
| XM_017023669.1:c.1543G>T | XP_016879158.1:p.Gly515Cys | |
| XM_017023670.1:c.1501G>T | XP_016879159.1:p.Gly501Cys | |
| XM_024450445.1:c.1708G>T | XP_024306213.1:p.Gly570Cys | |
| XM_024450446.1:c.1543G>T | XP_024306214.1:p.Gly515Cys | |
| XR_933430.2:n.2359G>T | ||
| NM_030581.4:c.2407G>T MANE Select | NP_085058.3:p.Gly803Cys |