Linked Data
ClinVar Variation Id:
1565115
ClinVar RCV Id:
RCV002205149
dbSNP Id:
rs572772760
ExAC:
11:6413282 C / T
gnomAD v2:
11-6413282-C-T
gnomAD v3:
11-6392052-C-T
gnomAD v4:
11-6392052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6392052C>T , CM000673.2:g.6392052C>T | GRCh38 |
| NC_000011.9:g.6413282C>T , CM000673.1:g.6413282C>T | GRCh37 |
| NC_000011.8:g.6369858C>T | NCBI36 |
| NG_011780.1:g.6628C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.987C>T MANE Select | ENSP00000340409.4:p.Phe329= | |
| ENST00000342245.8:c.987C>T | ENSP00000340409.4:p.Phe329= | |
| ENST00000526280.1:c.176C>T | ||
| ENST00000527275.5:c.984C>T | ENSP00000435350.1:p.Phe328= | |
| ENST00000531303.5:c.438+549C>T | ENSP00000432625.1:n.438+549C>T | |
| ENST00000533123.5:c.987C>T | ENSP00000435950.1:p.Phe329= | |
| ENST00000533196.1:n.421C>T | ||
| ENST00000534405.5:c.987C>T | ENSP00000434353.1:p.Phe329= | |
| NM_000543.4:c.987C>T | NP_000534.3:p.Phe329= | |
| NM_001007593.2:c.984C>T | NP_001007594.2:p.Phe328= | |
| XM_005253075.3:c.987C>T | XP_005253132.1:p.Phe329= | |
| XM_011520303.1:c.987C>T | XP_011518605.1:p.Phe329= | |
| XM_011520304.1:c.987C>T | XP_011518606.1:p.Phe329= | |
| XR_930886.1:n.1285C>T | ||
| NM_001318087.1:c.987C>T | NP_001305016.1:p.Phe329= | |
| NM_001318088.1:c.26C>T | NP_001305017.1:p.Ser9Phe | |
| NM_001365135.1:c.987C>T | NP_001352064.1:p.Phe329= | |
| NR_027400.2:n.1172C>T | ||
| NR_134502.1:n.623+549C>T | ||
| XM_011520304.2:c.987C>T | XP_011518606.1:p.Phe329= | |
| XR_001747940.2:n.1112C>T | ||
| XR_002957158.1:n.1112C>T | ||
| NM_000543.5:c.987C>T MANE Select | NP_000534.3:p.Phe329= | |
| NM_001007593.3:c.984C>T | NP_001007594.2:p.Phe328= | |
| NM_001318087.2:c.987C>T | NP_001305016.1:p.Phe329= | |
| NM_001318088.2:c.26C>T | NP_001305017.1:p.Ser9Phe | |
| NM_001365135.2:c.987C>T | NP_001352064.1:p.Phe329= | |
| NR_027400.3:n.1112C>T | ||
| NR_134502.2:n.563+549C>T |