Linked Data
dbSNP Id:
rs757930414
ExAC:
9:37429677 G / A
gnomAD v2:
9-37429677-G-A
gnomAD v3:
9-37429680-G-A
gnomAD v4:
9-37429680-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429680G>A , CM000671.2:g.37429680G>A | GRCh38 |
| NC_000009.11:g.37429677G>A , CM000671.1:g.37429677G>A | GRCh37 |
| NC_000009.10:g.37419677G>A | NCBI36 |
| NG_008135.1:g.11971G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.494-52G>A MANE Select | ENSP00000313432.6:n.494-52G>A | |
| ENST00000318158.10:c.494-52G>A | ENSP00000313432.6:n.494-52G>A | |
| ENST00000377824.8:n.531-52G>A | ||
| ENST00000460882.5:n.521-52G>A | ||
| ENST00000480596.5:n.1143G>A | ||
| ENST00000491488.5:n.199-52G>A | ||
| ENST00000494290.1:c.13G>A | ENSP00000432021.1:p.Val5Ile | |
| ENST00000497693.1:n.1975G>A | ||
| ENST00000607784.1:c.494-52G>A | ENSP00000475569.1:n.494-52G>A | |
| NM_012203.1:c.494-52G>A | NP_036335.1:n.494-52G>A | |
| XM_005251631.1:c.173-52G>A | XP_005251688.1:n.173-52G>A | |
| XM_011518073.1:c.92-52G>A | XP_011516375.1:n.92-52G>A | |
| XR_929374.1:n.939-52G>A | ||
| XM_017015320.2:c.494-52G>A | XP_016870809.1:n.494-52G>A | |
| XM_017015321.2:c.494-52G>A | XP_016870810.1:n.494-52G>A | |
| XM_017015323.2:c.92-52G>A | XP_016870812.1:n.92-52G>A | |
| XM_024447716.1:c.767-52G>A | XP_024303484.1:n.767-52G>A | |
| XM_024447717.1:c.767-52G>A | XP_024303485.1:n.767-52G>A | |
| XR_002956828.1:n.782-52G>A | ||
| XR_002956829.1:n.782-52G>A | ||
| XR_002956830.1:n.553-52G>A | ||
| XR_002956831.1:n.228-52G>A | ||
| XR_002956832.1:n.913-52G>A | ||
| NM_012203.2:c.494-52G>A MANE Select | NP_036335.1:n.494-52G>A |