Linked Data
ClinVar Variation Id:
283518
dbSNP Id:
rs148801200
ExAC:
16:55519616 C / T
gnomAD v2:
16-55519616-C-T
gnomAD v3:
16-55485704-C-T
gnomAD v4:
16-55485704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55485704C>T , CM000678.2:g.55485704C>T | GRCh38 |
| NC_000016.9:g.55519616C>T , CM000678.1:g.55519616C>T | GRCh37 |
| NC_000016.8:g.54077117C>T | NCBI36 |
| NG_008989.1:g.11536C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219070.9:c.759C>T MANE Select | ENSP00000219070.4:p.Ser253= | |
| ENST00000219070.8:c.759C>T | ENSP00000219070.4:p.Ser253= | |
| ENST00000437642.6:c.609C>T | ENSP00000394237.2:p.Ser203= | |
| ENST00000543485.5:c.531C>T | ENSP00000444143.1:p.Ser177= | |
| ENST00000564864.5:c.531C>T | ENSP00000456096.1:p.Ser177= | |
| ENST00000570308.5:c.531C>T | ENSP00000461421.1:p.Ser177= | |
| NM_001127891.2:c.609C>T | NP_001121363.1:p.Ser203= | |
| NM_001302508.1:c.531C>T | NP_001289437.1:p.Ser177= | |
| NM_001302509.1:c.531C>T | NP_001289438.1:p.Ser177= | |
| NM_001302510.1:c.531C>T | NP_001289439.1:p.Ser177= | |
| NM_004530.5:c.759C>T | NP_004521.1:p.Ser253= | |
| NM_004530.6:c.759C>T MANE Select | NP_004521.1:p.Ser253= | |
| NM_001127891.3:c.609C>T | NP_001121363.1:p.Ser203= | |
| NM_001302509.2:c.531C>T | NP_001289438.1:p.Ser177= | |
| NM_001302510.2:c.531C>T | NP_001289439.1:p.Ser177= |