Linked Data
dbSNP Id:
rs78117248
gnomAD v2:
19-1052853-A-G
gnomAD v3:
19-1052854-A-G
gnomAD v4:
19-1052854-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1052854A>G , CM000681.2:g.1052854A>G | GRCh38 |
| NC_000019.9:g.1052853A>G , CM000681.1:g.1052853A>G | GRCh37 |
| NC_000019.8:g.1003853A>G | NCBI36 |
| NG_046909.1:g.17752A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263094.11:c.3221-475A>G MANE Select | ENSP00000263094.6:n.3221-475A>G | |
| ENST00000433129.6:n.3901-475A>G | ||
| ENST00000435683.7:c.692-475A>G | ENSP00000465322.2:n.692-475A>G | |
| ENST00000263094.10:c.3221-475A>G | ENSP00000263094.6:n.3221-475A>G | |
| ENST00000433129.5:c.3221-475A>G | ENSP00000414062.1:n.3221-475A>G | |
| ENST00000435683.6:c.2807-475A>G | ENSP00000465322.1:n.2807-475A>G | |
| NM_019112.3:c.3221-475A>G | NP_061985.2:n.3221-475A>G | |
| XM_006722616.1:c.3221-475A>G | XP_006722679.1:n.3221-475A>G | |
| XM_006722617.2:c.3221-475A>G | XP_006722680.1:n.3221-475A>G | |
| XM_006722618.2:c.878-475A>G | XP_006722681.1:n.878-475A>G | |
| XM_011527628.1:c.3221-475A>G | XP_011525930.1:n.3221-475A>G | |
| XM_011527629.1:c.3194-475A>G | XP_011525931.1:n.3194-475A>G | |
| XM_011527630.1:c.3221-475A>G | XP_011525932.1:n.3221-475A>G | |
| XM_011527631.1:c.3221-475A>G | XP_011525933.1:n.3221-475A>G | |
| XM_011527632.1:c.2765-475A>G | XP_011525934.1:n.2765-475A>G | |
| XM_011527633.1:c.3221-475A>G | XP_011525935.1:n.3221-475A>G | |
| XM_011527634.1:c.3221-475A>G | XP_011525936.1:n.3221-475A>G | |
| XM_011527635.1:c.3221-475A>G | XP_011525937.1:n.3221-475A>G | |
| XM_011527636.1:c.878-475A>G | XP_011525938.1:n.878-475A>G | |
| XR_936148.1:n.3439-475A>G | ||
| XR_936149.1:n.3439-475A>G | ||
| XR_936150.1:n.3439-475A>G | ||
| XR_936151.1:n.3439-475A>G | ||
| XR_936152.1:n.3439-475A>G | ||
| XR_936153.1:n.3439-475A>G | ||
| XR_936154.1:n.3439-475A>G | ||
| XR_936155.1:n.3439-475A>G | ||
| XM_011527633.2:c.3221-475A>G | XP_011525935.1:n.3221-475A>G | |
| XM_017026143.1:c.3221-475A>G | XP_016881632.1:n.3221-475A>G | |
| XM_024451315.1:c.3221-475A>G | XP_024307083.1:n.3221-475A>G | |
| XM_024451316.1:c.3221-475A>G | XP_024307084.1:n.3221-475A>G | |
| XM_024451317.1:c.3194-475A>G | XP_024307085.1:n.3194-475A>G | |
| XM_024451318.1:c.3221-475A>G | XP_024307086.1:n.3221-475A>G | |
| XM_024451319.1:c.3221-475A>G | XP_024307087.1:n.3221-475A>G | |
| XM_024451320.1:c.3221-475A>G | XP_024307088.1:n.3221-475A>G | |
| XM_024451321.1:c.3221-475A>G | XP_024307089.1:n.3221-475A>G | |
| XM_024451322.1:c.2765-475A>G | XP_024307090.1:n.2765-475A>G | |
| XM_024451323.1:c.3221-475A>G | XP_024307091.1:n.3221-475A>G | |
| XM_024451324.1:c.878-475A>G | XP_024307092.1:n.878-475A>G | |
| XM_024451325.1:c.878-475A>G | XP_024307093.1:n.878-475A>G | |
| XR_001753585.1:n.3439-475A>G | ||
| XR_001753586.1:n.3439-475A>G | ||
| XR_002958240.1:n.3439-475A>G | ||
| XR_002958241.1:n.3439-475A>G | ||
| XR_002958242.1:n.3439-475A>G | ||
| NM_019112.4:c.3221-475A>G MANE Select | NP_061985.2:n.3221-475A>G |