Linked Data
ClinVar Variation Id:
6654
dbSNP Id:
rs121908923
ExAC:
3:15495345 T / G
gnomAD v2:
3-15495345-T-G
gnomAD v3:
3-15453838-T-G
gnomAD v4:
3-15453838-T-G
PubMed:
PMID:9758617
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15453838T>G , CM000665.2:g.15453838T>G | GRCh38 |
| NC_000003.11:g.15495345T>G , CM000665.1:g.15495345T>G | GRCh37 |
| NC_000003.10:g.15470349T>G | NCBI36 |
| NG_009032.1:g.72914A>C | |
| NG_009032.2:g.72914A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000608408.2:n.120A>C (EAF1-AS1) | ||
| ENST00000629729.3:c.136A>C | ENSP00000518887.1:n.136A>C | |
| ENST00000383788.10:c.1289A>C (COLQ) MANE Select | ENSP00000373298.3:p.Tyr430Ser | |
| ENST00000604401.2:n.1145A>C (COLQ) | ||
| ENST00000679838.1:c.*1051A>C (COLQ) | ENSP00000505708.1:n.*1051A>C | |
| ENST00000680240.1:n.1201A>C (COLQ) | ||
| ENST00000680545.1:n.1055A>C (COLQ) | ||
| ENST00000680897.1:n.754A>C (COLQ) | ||
| ENST00000681097.1:c.*303A>C (COLQ) | ENSP00000505397.1:n.*303A>C | |
| ENST00000681222.1:n.4780A>C (COLQ) | ||
| ENST00000383781.8:c.1259A>C (COLQ) | ENSP00000373291.3:p.Tyr420Ser | |
| ENST00000383786.9:c.1187A>C (COLQ) | ENSP00000373296.3:p.Tyr396Ser | |
| ENST00000383788.9:c.1289A>C (COLQ) | ENSP00000373298.3:p.Tyr430Ser | |
| ENST00000603808.5:c.1292A>C (COLQ) | ENSP00000474271.1:p.Tyr431Ser | |
| NM_005677.3:c.1289A>C (COLQ) | NP_005668.2:p.Tyr430Ser | |
| NM_080538.2:c.1259A>C (COLQ) | NP_536799.1:p.Tyr420Ser | |
| NM_080539.3:c.1187A>C (COLQ) | NP_536800.2:p.Tyr396Ser | |
| NM_005677.4:c.1289A>C (COLQ) MANE Select | NP_005668.2:p.Tyr430Ser | |
| NM_080539.4:c.1187A>C (COLQ) | NP_536800.2:p.Tyr396Ser |