Linked Data
ClinVar Variation Id:
295740
dbSNP Id:
rs762130127
ExAC:
1:22163378 G / A
gnomAD v3:
1-21836885-G-A
gnomAD v4:
1-21836885-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21836885G>A , CM000663.2:g.21836885G>A | GRCh38 |
| NC_000001.10:g.22163378G>A , CM000663.1:g.22163378G>A | GRCh37 |
| NC_000001.9:g.22035965G>A | NCBI36 |
| NG_016740.1:g.105373C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.10272C>T MANE Select | ENSP00000363827.3:p.Pro3424= | |
| ENST00000374676.4:c.183-1248C>T | ||
| ENST00000374695.7:c.10272C>T | ENSP00000363827.3:p.Pro3424= | |
| ENST00000471322.2:n.33C>T | ||
| NM_001291860.1:c.10275C>T | NP_001278789.1:p.Pro3425= | |
| NM_005529.6:c.10272C>T | NP_005520.4:p.Pro3424= | |
| XM_006710594.2:c.10818C>T | XP_006710657.1:p.Pro3606= | |
| XM_006710595.2:c.10770C>T | XP_006710658.1:p.Pro3590= | |
| XM_006710596.2:c.10749C>T | XP_006710659.1:p.Pro3583= | |
| XM_006710597.2:c.10272C>T | XP_006710660.1:p.Pro3424= | |
| XM_011541317.1:c.10821C>T | XP_011539619.1:p.Pro3607= | |
| XM_011541318.1:c.10821C>T | XP_011539620.1:p.Pro3607= | |
| XM_011541319.1:c.10821C>T | XP_011539621.1:p.Pro3607= | |
| XM_011541320.1:c.10542C>T | XP_011539622.1:p.Pro3514= | |
| XM_011541321.1:c.10326C>T | XP_011539623.1:p.Pro3442= | |
| XM_011541318.2:c.10821C>T | XP_011539620.1:p.Pro3607= | |
| XM_017001120.1:c.10467C>T | XP_016856609.1:p.Pro3489= | |
| XM_017001121.1:c.10416C>T | XP_016856610.1:p.Pro3472= | |
| XM_017001122.1:c.10413C>T | XP_016856611.1:p.Pro3471= | |
| NM_005529.7:c.10272C>T MANE Select | NP_005520.4:p.Pro3424= | |
| NM_001291860.2:c.10275C>T | NP_001278789.1:p.Pro3425= |