Linked Data
dbSNP Id:
rs780952321
ExAC:
6:152419990 C / T
gnomAD v2:
6-152419990-C-T
gnomAD v3:
6-152098855-C-T
gnomAD v4:
6-152098855-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152098855C>T , CM000668.2:g.152098855C>T | GRCh38 |
| NC_000006.11:g.152419990C>T , CM000668.1:g.152419990C>T | GRCh37 |
| NC_000006.10:g.152461683C>T | NCBI36 |
| NG_008493.1:g.413360C>T | |
| NG_008493.2:g.447165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206249.8:c.1677C>T MANE Select | ENSP00000206249.3:p.Ser559= | |
| ENST00000641399.1:n.1005C>T | ||
| ENST00000206249.7:c.1677C>T | ENSP00000206249.3:p.Ser559= | |
| ENST00000338799.9:c.1677C>T | ENSP00000342630.5:p.Ser559= | |
| ENST00000406599.5:c.894C>T | ENSP00000384064.1:p.Ser298= | |
| ENST00000427531.6:c.851-26411C>T | ENSP00000394721.2:n.851-26411C>T | |
| ENST00000440973.5:c.1677C>T | ENSP00000405330.1:p.Ser559= | |
| ENST00000443427.5:c.1677C>T | ENSP00000387500.1:p.Ser559= | |
| ENST00000456483.3:c.*552C>T | ENSP00000415934.3:n.*552C>T | |
| NM_000125.3:c.1677C>T | NP_000116.2:p.Ser559= | |
| NM_001122740.1:c.1677C>T | NP_001116212.1:p.Ser559= | |
| NM_001122741.1:c.1677C>T | NP_001116213.1:p.Ser559= | |
| NM_001122742.1:c.1677C>T | NP_001116214.1:p.Ser559= | |
| NM_001291230.1:c.1683C>T | NP_001278159.1:p.Ser561= | |
| NM_001291241.1:c.1674C>T | NP_001278170.1:p.Ser558= | |
| XM_006715374.2:c.*92C>T | XP_006715437.1:n.*92C>T | |
| XM_006715375.2:c.1158C>T | XP_006715438.1:p.Ser386= | |
| XM_011535543.1:c.1677C>T | XP_011533845.1:p.Ser559= | |
| XM_011535544.1:c.1677C>T | XP_011533846.1:p.Ser559= | |
| XM_011535545.1:c.1677C>T | XP_011533847.1:p.Ser559= | |
| XM_011535546.1:c.1677C>T | XP_011533848.1:p.Ser559= | |
| XM_011535548.1:c.1158C>T | XP_011533850.1:p.Ser386= | |
| XM_011535549.1:c.948C>T | XP_011533851.1:p.Ser316= | |
| NM_001328100.1:c.851-26411C>T | NP_001315029.1:n.851-26411C>T | |
| XM_006715374.3:c.*92C>T | XP_006715437.1:n.*92C>T | |
| XM_006715375.3:c.1158C>T | XP_006715438.1:p.Ser386= | |
| XM_011535543.2:c.1677C>T | XP_011533845.1:p.Ser559= | |
| XM_011535544.2:c.1677C>T | XP_011533846.1:p.Ser559= | |
| XM_011535545.2:c.1677C>T | XP_011533847.1:p.Ser559= | |
| XM_011535549.2:c.948C>T | XP_011533851.1:p.Ser316= | |
| XM_017010376.1:c.1677C>T | XP_016865865.1:p.Ser559= | |
| XM_017010377.1:c.1677C>T | XP_016865866.1:p.Ser559= | |
| XM_017010378.1:c.1677C>T | XP_016865867.1:p.Ser559= | |
| XM_017010379.1:c.1677C>T | XP_016865868.1:p.Ser559= | |
| XM_017010380.1:c.1677C>T | XP_016865869.1:p.Ser559= | |
| XM_017010381.1:c.1677C>T | XP_016865870.1:p.Ser559= | |
| XM_017010382.2:c.1020C>T | XP_016865871.1:p.Ser340= | |
| XM_017010383.1:c.888C>T | XP_016865872.1:p.Ser296= | |
| XR_001743223.2:n.1724C>T | ||
| NM_000125.4:c.1677C>T MANE Select | NP_000116.2:p.Ser559= | |
| NM_001328100.2:c.851-26411C>T | NP_001315029.1:n.851-26411C>T | |
| NM_001122740.2:c.1677C>T | NP_001116212.1:p.Ser559= | |
| NM_001122741.2:c.1677C>T | NP_001116213.1:p.Ser559= | |
| NM_001122742.2:c.1677C>T | NP_001116214.1:p.Ser559= | |
| NM_001291230.2:c.1683C>T | NP_001278159.1:p.Ser561= | |
| NM_001291241.2:c.1674C>T | NP_001278170.1:p.Ser558= | |
| NM_001385568.1:c.1677C>T | NP_001372497.1:p.Ser559= | |
| NM_001385569.1:c.1677C>T | NP_001372498.1:p.Ser559= | |
| NM_001385570.1:c.*92C>T | NP_001372499.1:n.*92C>T | |
| NM_001385571.1:c.*92C>T | NP_001372500.1:n.*92C>T | |
| NM_001385572.1:c.*92C>T | NP_001372501.1:n.*92C>T |