Linked Data
ClinVar Variation Id:
402170
ClinVar RCV Id:
RCV000454191
dbSNP Id:
rs1060499752
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.160064970T>G , CM000667.2:g.160064970T>G | GRCh38 |
| NC_000005.9:g.159491977T>G , CM000667.1:g.159491977T>G | GRCh37 |
| NC_000005.8:g.159424555T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682131.1:c.475T>G (TTC1) | ENSP00000506992.1:p.Phe159Val | |
| ENST00000682172.1:c.*591T>G (TTC1) | ENSP00000508176.1:n.*591T>G | |
| ENST00000682255.1:n.1415T>G (TTC1) | ||
| ENST00000682457.1:n.2682T>G (TTC1) | ||
| ENST00000682719.1:c.784T>G (TTC1) | ENSP00000507891.1:p.Phe262Val | |
| ENST00000683219.1:c.580T>G (TTC1) | ENSP00000507941.1:p.Phe194Val | |
| ENST00000683281.1:n.775T>G (TTC1) | ||
| ENST00000683631.1:c.595T>G (TTC1) | ||
| ENST00000684018.1:c.*83T>G (TTC1) | ENSP00000506758.1:n.*83T>G | |
| ENST00000684137.1:c.*30T>G (TTC1) | ENSP00000507868.1:n.*30T>G | |
| ENST00000684515.1:n.880T>G (TTC1) | ||
| ENST00000231238.10:c.784T>G (TTC1) MANE Select | ENSP00000231238.4:p.Phe262Val | |
| ENST00000231238.9:c.784T>G (TTC1) | ENSP00000231238.4:p.Phe262Val | |
| ENST00000518560.1:c.280T>G (TTC1) | ENSP00000428613.1:p.Phe94Val | |
| ENST00000520274.1:n.566T>G (TTC1) | ||
| ENST00000522073.5:n.578T>G (TTC1) | ||
| ENST00000522793.5:c.784T>G (TTC1) | ENSP00000429225.1:p.Phe262Val | |
| ENST00000524050.5:c.343-1297A>C (PWWP2A) | ||
| NM_001282500.1:c.784T>G (TTC1) | NP_001269429.1:p.Phe262Val | |
| NM_003314.2:c.784T>G (TTC1) | NP_003305.1:p.Phe262Val | |
| XM_011534423.1:c.1550-1297A>C (PWWP2A) | XP_011532725.1:n.1550-1297A>C | |
| XM_011534424.1:c.1550-1297A>C (PWWP2A) | XP_011532726.1:n.1550-1297A>C | |
| XM_011534424.3:c.1550-1297A>C (PWWP2A) | XP_011532726.1:n.1550-1297A>C | |
| XM_017009012.2:c.1550-1297A>C (PWWP2A) | XP_016864501.1:n.1550-1297A>C | |
| XR_001741991.1:n.3038-1297A>C (PWWP2A) | ||
| NM_003314.3:c.784T>G (TTC1) MANE Select | NP_003305.1:p.Phe262Val | |
| NM_001282500.2:c.784T>G (TTC1) | NP_001269429.1:p.Phe262Val |