Linked Data
dbSNP Id:
rs1232644003
gnomAD v2:
3-15492386-A-G
gnomAD v3:
3-15450879-A-G
gnomAD v4:
3-15450879-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15450879A>G , CM000665.2:g.15450879A>G | GRCh38 |
| NC_000003.11:g.15492386A>G , CM000665.1:g.15492386A>G | GRCh37 |
| NC_000003.10:g.15467390A>G | NCBI36 |
| NG_009032.1:g.75873T>C | |
| NG_009032.2:g.75873T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000608408.2:n.398+566T>C (EAF1-AS1) | ||
| ENST00000626521.1:n.55+566T>C (EAF1-AS1) | ||
| ENST00000629729.3:c.414+566T>C | ENSP00000518887.1:n.414+566T>C | |
| ENST00000383788.10:c.*765T>C (COLQ) MANE Select | ENSP00000373298.3:n.*765T>C | |
| ENST00000679838.1:c.*1895T>C (COLQ) | ENSP00000505708.1:n.*1895T>C | |
| ENST00000680545.1:n.1899T>C (COLQ) | ||
| ENST00000680897.1:n.1598T>C (COLQ) | ||
| ENST00000681097.1:c.*1147T>C (COLQ) | ENSP00000505397.1:n.*1147T>C | |
| ENST00000681222.1:n.5624T>C (COLQ) | ||
| ENST00000383781.8:c.*765T>C (COLQ) | ENSP00000373291.3:n.*765T>C | |
| ENST00000383788.9:c.*765T>C (COLQ) | ENSP00000373298.3:n.*765T>C | |
| ENST00000603752.1:n.1T>C (COLQ) | ||
| NM_005677.3:c.*765T>C (COLQ) | NP_005668.2:n.*765T>C | |
| NM_080538.2:c.*765T>C (COLQ) | NP_536799.1:n.*765T>C | |
| NM_080539.3:c.*765T>C (COLQ) | NP_536800.2:n.*765T>C | |
| NM_005677.4:c.*765T>C (COLQ) MANE Select | NP_005668.2:n.*765T>C | |
| NM_080539.4:c.*765T>C (COLQ) | NP_536800.2:n.*765T>C |