Linked Data
dbSNP Id:
rs6602024
gnomAD v2:
10-3155237-A-G
gnomAD v3:
10-3113045-A-G
gnomAD v4:
10-3113045-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3113045A>G , CM000672.2:g.3113045A>G | GRCh38 |
| NC_000010.10:g.3155237A>G , CM000672.1:g.3155237A>G | GRCh37 |
| NC_000010.9:g.3145237A>G | NCBI36 |
| NG_051598.1:g.50572A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699222.1:c.1155-74A>G | ENSP00000514216.1:n.1155-74A>G | |
| ENST00000381075.7:c.1041-74A>G | ENSP00000370465.3:n.1041-74A>G | |
| ENST00000381125.9:c.1155-74A>G MANE Select | ENSP00000370517.4:n.1155-74A>G | |
| ENST00000415005.6:c.507-74A>G | ENSP00000408858.2:n.507-74A>G | |
| ENST00000676796.1:c.1041-74A>G | ENSP00000503786.1:n.1041-74A>G | |
| ENST00000678089.1:c.*962-74A>G | ENSP00000503212.1:n.*962-74A>G | |
| ENST00000678206.1:c.*635-74A>G | ENSP00000504635.1:n.*635-74A>G | |
| ENST00000381075.6:c.1131-74A>G | ENSP00000370465.2:n.1131-74A>G | |
| ENST00000381125.8:c.1155-74A>G | ENSP00000370517.4:n.1155-74A>G | |
| ENST00000415005.5:c.507-74A>G | ENSP00000408858.1:n.507-74A>G | |
| NM_001242339.1:c.1131-74A>G | NP_001229268.1:n.1131-74A>G | |
| NM_002627.4:c.1155-74A>G | NP_002618.1:n.1155-74A>G | |
| XM_005252465.3:c.1155-74A>G | XP_005252522.1:n.1155-74A>G | |
| XM_005252466.3:c.1155-74A>G | XP_005252523.1:n.1155-74A>G | |
| XM_005252467.2:c.1041-74A>G | XP_005252524.1:n.1041-74A>G | |
| XM_006717449.1:c.1041-74A>G | XP_006717512.1:n.1041-74A>G | |
| NM_001323067.1:c.1074-74A>G | NP_001309996.1:n.1074-74A>G | |
| NM_001323068.1:c.1155-74A>G | NP_001309997.1:n.1155-74A>G | |
| NM_001323069.1:c.648-74A>G | NP_001309998.1:n.648-74A>G | |
| NM_001323070.1:c.507-74A>G | NP_001309999.1:n.507-74A>G | |
| NM_001323071.1:c.1041-74A>G | NP_001310000.1:n.1041-74A>G | |
| NM_001323072.1:c.1041-74A>G | NP_001310001.1:n.1041-74A>G | |
| NM_001323073.1:c.507-74A>G | NP_001310002.1:n.507-74A>G | |
| NM_001323074.1:c.507-74A>G | NP_001310003.1:n.507-74A>G | |
| NM_001345944.1:c.1041-74A>G | NP_001332873.1:n.1041-74A>G | |
| XM_005252465.4:c.1155-74A>G | XP_005252522.1:n.1155-74A>G | |
| XM_005252466.4:c.1155-74A>G | XP_005252523.1:n.1155-74A>G | |
| XM_024448038.1:c.1041-74A>G | XP_024303806.1:n.1041-74A>G | |
| NM_002627.5:c.1155-74A>G MANE Select | NP_002618.1:n.1155-74A>G | |
| NM_001323068.2:c.1155-74A>G | NP_001309997.1:n.1155-74A>G | |
| NM_001323069.2:c.648-74A>G | NP_001309998.1:n.648-74A>G | |
| NM_001323071.2:c.1041-74A>G | NP_001310000.1:n.1041-74A>G | |
| NM_001242339.2:c.1131-74A>G | NP_001229268.1:n.1131-74A>G | |
| NM_001323067.2:c.1074-74A>G | NP_001309996.1:n.1074-74A>G | |
| NM_001323072.2:c.1041-74A>G | NP_001310001.1:n.1041-74A>G |