Linked Data
ClinVar Variation Id:
344388
dbSNP Id:
rs763019843
ExAC:
3:189607265 C / T
gnomAD v2:
3-189607265-C-T
gnomAD v3:
3-189889476-C-T
gnomAD v4:
3-189889476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189889476C>T , CM000665.2:g.189889476C>T | GRCh38 |
| NC_000003.11:g.189607265C>T , CM000665.1:g.189607265C>T | GRCh37 |
| NC_000003.10:g.191089959C>T | NCBI36 |
| NG_007550.1:g.263050C>T | |
| NG_007550.2:g.263050C>T | |
| NG_007550.3:g.297731C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264731.8:c.1644C>T MANE Select | ENSP00000264731.3:p.Ser548= | |
| ENST00000354600.10:c.1362C>T MANE Plus Clinical | ENSP00000346614.5:p.Ser454= | |
| ENST00000264731.7:c.1644C>T | ENSP00000264731.3:p.Ser548= | |
| ENST00000320472.9:c.1507+2925C>T | ENSP00000317510.5:n.1507+2925C>T | |
| ENST00000354600.9:c.1362C>T | ENSP00000346614.5:p.Ser454= | |
| ENST00000392460.7:c.1644C>T | ENSP00000376253.3:p.Ser548= | |
| ENST00000392461.7:c.1225+2925C>T | ENSP00000376254.3:n.1225+2925C>T | |
| ENST00000392463.6:c.1362C>T | ENSP00000376256.2:p.Ser454= | |
| ENST00000440651.6:c.1632C>T | ENSP00000394337.2:p.Ser544= | |
| ENST00000449992.5:c.1107C>T | ENSP00000387839.1:p.Ser369= | |
| ENST00000456148.1:c.1350C>T | ENSP00000389485.1:p.Ser450= | |
| NM_001114978.1:c.1644C>T | NP_001108450.1:p.Ser548= | |
| NM_001114980.1:c.1362C>T | NP_001108452.1:p.Ser454= | |
| NM_001114981.1:c.1362C>T | NP_001108453.1:p.Ser454= | |
| NM_003722.4:c.1644C>T | NP_003713.3:p.Ser548= | |
| XM_005247843.2:c.1632C>T | XP_005247900.1:p.Ser544= | |
| XM_005247844.3:c.1593C>T | XP_005247901.1:p.Ser531= | |
| XM_011513251.1:c.1641C>T | XP_011511553.1:p.Ser547= | |
| XM_011513252.1:c.1638C>T | XP_011511554.1:p.Ser546= | |
| XM_011513253.1:c.1605C>T | XP_011511555.1:p.Ser535= | |
| NM_001329144.1:c.1507+2925C>T | NP_001316073.1:n.1507+2925C>T | |
| NM_001329145.1:c.1225+2925C>T | NP_001316074.1:n.1225+2925C>T | |
| NM_001329146.1:c.1107C>T | NP_001316075.1:p.Ser369= | |
| NM_001329148.1:c.1632C>T | NP_001316077.1:p.Ser544= | |
| NM_001329149.1:c.1213+2925C>T | NP_001316078.1:n.1213+2925C>T | |
| NM_001329150.1:c.958+2925C>T | NP_001316079.1:n.958+2925C>T | |
| NM_001329964.1:c.1638C>T | NP_001316893.1:p.Ser546= | |
| NM_003722.5:c.1644C>T MANE Select | NP_003713.3:p.Ser548= | |
| NM_001114978.2:c.1644C>T | NP_001108450.1:p.Ser548= | |
| NM_001114980.2:c.1362C>T MANE Plus Clinical | NP_001108452.1:p.Ser454= | |
| NM_001114981.2:c.1362C>T | NP_001108453.1:p.Ser454= | |
| NM_001329144.2:c.1507+2925C>T | NP_001316073.1:n.1507+2925C>T | |
| NM_001329145.2:c.1225+2925C>T | NP_001316074.1:n.1225+2925C>T | |
| NM_001329146.2:c.1107C>T | NP_001316075.1:p.Ser369= | |
| NM_001329148.2:c.1632C>T | NP_001316077.1:p.Ser544= | |
| NM_001329149.2:c.1213+2925C>T | NP_001316078.1:n.1213+2925C>T | |
| NM_001329150.2:c.958+2925C>T | NP_001316079.1:n.958+2925C>T | |
| NM_001329964.2:c.1638C>T | NP_001316893.1:p.Ser546= |