Linked Data
dbSNP Id:
rs964814628
gnomAD v2:
3-15492196-T-C
gnomAD v3:
3-15450689-T-C
gnomAD v4:
3-15450689-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15450689T>C , CM000665.2:g.15450689T>C | GRCh38 |
| NC_000003.11:g.15492196T>C , CM000665.1:g.15492196T>C | GRCh37 |
| NC_000003.10:g.15467200T>C | NCBI36 |
| NG_009032.1:g.76063A>G | |
| NG_009032.2:g.76063A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000608408.2:n.398+756A>G (EAF1-AS1) | ||
| ENST00000626521.1:n.55+756A>G (EAF1-AS1) | ||
| ENST00000629729.3:c.414+756A>G | ENSP00000518887.1:n.414+756A>G | |
| ENST00000383788.10:c.*955A>G (COLQ) MANE Select | ENSP00000373298.3:n.*955A>G | |
| ENST00000679838.1:c.*2085A>G (COLQ) | ENSP00000505708.1:n.*2085A>G | |
| ENST00000680545.1:n.2089A>G (COLQ) | ||
| ENST00000680897.1:n.1788A>G (COLQ) | ||
| ENST00000681097.1:c.*1337A>G (COLQ) | ENSP00000505397.1:n.*1337A>G | |
| ENST00000681222.1:n.5814A>G (COLQ) | ||
| ENST00000383781.8:c.*955A>G (COLQ) | ENSP00000373291.3:n.*955A>G | |
| ENST00000383788.9:c.*955A>G (COLQ) | ENSP00000373298.3:n.*955A>G | |
| ENST00000603752.1:n.191A>G (COLQ) | ||
| NM_005677.3:c.*955A>G (COLQ) | NP_005668.2:n.*955A>G | |
| NM_080538.2:c.*955A>G (COLQ) | NP_536799.1:n.*955A>G | |
| NM_080539.3:c.*955A>G (COLQ) | NP_536800.2:n.*955A>G | |
| NM_005677.4:c.*955A>G (COLQ) MANE Select | NP_005668.2:n.*955A>G | |
| NM_080539.4:c.*955A>G (COLQ) | NP_536800.2:n.*955A>G |