Linked Data
ClinVar Variation Id:
789331
ClinVar RCV Id:
RCV000971943
dbSNP Id:
rs182187974
ExAC:
15:41962080 C / G
gnomAD v2:
15-41962080-C-G
gnomAD v3:
15-41669882-C-G
gnomAD v4:
15-41669882-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41669882C>G , CM000677.2:g.41669882C>G | GRCh38 |
| NC_000015.9:g.41962080C>G , CM000677.1:g.41962080C>G | GRCh37 |
| NC_000015.8:g.39749372C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703840.1:n.1172C>G | ||
| ENST00000703841.1:c.988C>G MANE Select | ENSP00000515495.1:p.Arg330Gly | |
| ENST00000219905.13:c.988C>G | ENSP00000219905.7:p.Arg330Gly | |
| ENST00000545763.6:c.-307-26193C>G | ENSP00000442467.2:n.-307-26193C>G | |
| ENST00000563576.6:n.1111C>G | ||
| ENST00000566586.6:c.988C>G | ENSP00000456141.1:p.Arg330Gly | |
| ENST00000566718.6:c.988C>G | ENSP00000455155.2:p.Arg330Gly | |
| ENST00000570161.6:c.988C>G | ENSP00000457035.2:p.Arg330Gly | |
| ENST00000682463.1:n.1114C>G | ||
| ENST00000219905.11:c.988C>G | ENSP00000219905.7:p.Arg330Gly | |
| ENST00000545763.5:c.988C>G | ENSP00000442467.1:p.Arg330Gly | |
| ENST00000561532.1:c.159C>G | ||
| ENST00000563576.5:c.988C>G | ENSP00000457151.1:p.Arg330Gly | |
| ENST00000566586.5:c.988C>G | ENSP00000456141.1:p.Arg330Gly | |
| ENST00000566718.5:c.988C>G | ENSP00000455155.1:p.Arg330Gly | |
| ENST00000568630.1:n.76-26193C>G | ||
| ENST00000570161.5:c.988C>G | ENSP00000457035.1:p.Arg330Gly | |
| NM_001080541.2:c.988C>G | NP_001074010.2:p.Arg330Gly | |
| NM_001164273.1:c.988C>G | NP_001157745.1:p.Arg330Gly | |
| XM_005254243.1:c.988C>G | XP_005254300.1:p.Arg330Gly | |
| XM_005254244.2:c.988C>G | XP_005254301.1:p.Arg330Gly | |
| XM_005254245.3:c.988C>G | XP_005254302.1:p.Arg330Gly | |
| XM_005254246.1:c.988C>G | XP_005254303.1:p.Arg330Gly | |
| XM_005254247.1:c.988C>G | XP_005254304.1:p.Arg330Gly | |
| XM_005254248.1:c.988C>G | XP_005254305.1:p.Arg330Gly | |
| XM_005254249.1:c.988C>G | XP_005254306.1:p.Arg330Gly | |
| XM_005254252.1:c.988C>G | XP_005254309.1:p.Arg330Gly | |
| XM_005254253.1:c.988C>G | XP_005254310.1:p.Arg330Gly | |
| XM_006720443.2:c.988C>G | XP_006720506.1:p.Arg330Gly | |
| XM_006720444.2:c.9-26193C>G | XP_006720507.1:n.9-26193C>G | |
| XM_006720445.2:c.-307-26193C>G | XP_006720508.1:n.-307-26193C>G | |
| XM_011521397.1:c.988C>G | XP_011519699.1:p.Arg330Gly | |
| XM_011521398.1:c.988C>G | XP_011519700.1:p.Arg330Gly | |
| XM_011521401.1:c.988C>G | XP_011519703.1:p.Arg330Gly | |
| XM_005254243.3:c.988C>G | XP_005254300.1:p.Arg330Gly | |
| XM_005254244.4:c.988C>G | XP_005254301.1:p.Arg330Gly | |
| XM_005254245.5:c.988C>G | XP_005254302.1:p.Arg330Gly | |
| XM_005254246.3:c.988C>G | XP_005254303.1:p.Arg330Gly | |
| XM_005254247.3:c.988C>G | XP_005254304.1:p.Arg330Gly | |
| XM_005254248.3:c.988C>G | XP_005254305.1:p.Arg330Gly | |
| XM_005254249.3:c.988C>G | XP_005254306.1:p.Arg330Gly | |
| XM_005254252.3:c.988C>G | XP_005254309.1:p.Arg330Gly | |
| XM_005254253.3:c.988C>G | XP_005254310.1:p.Arg330Gly | |
| XM_006720443.4:c.988C>G | XP_006720506.1:p.Arg330Gly | |
| XM_006720445.4:c.-307-26193C>G | XP_006720508.1:n.-307-26193C>G | |
| XM_011521397.3:c.988C>G | XP_011519699.1:p.Arg330Gly | |
| XM_011521398.3:c.988C>G | XP_011519700.1:p.Arg330Gly | |
| XM_017022028.2:c.-308+9357C>G | XP_016877517.1:n.-308+9357C>G | |
| XM_017022029.2:c.-307-26193C>G | XP_016877518.1:n.-307-26193C>G | |
| XM_017022030.2:c.988C>G | XP_016877519.1:p.Arg330Gly | |
| XM_017022031.2:c.-3109+9357C>G | XP_016877520.1:n.-3109+9357C>G | |
| XR_001751172.2:n.1165C>G | ||
| XR_002957629.1:n.1165C>G | ||
| XR_002957630.1:n.1165C>G | ||
| NM_001080541.3:c.988C>G | NP_001074010.2:p.Arg330Gly | |
| NM_001164273.2:c.988C>G | NP_001157745.1:p.Arg330Gly | |
| NM_001400225.1:c.988C>G MANE Select | NP_001387154.1:p.Arg330Gly | |
| NM_001400242.1:c.988C>G | NP_001387171.1:p.Arg330Gly | |
| NM_001400243.1:c.988C>G | NP_001387172.1:p.Arg330Gly | |
| NM_001400244.1:c.988C>G | NP_001387173.1:p.Arg330Gly | |
| NM_001400245.1:c.988C>G | NP_001387174.1:p.Arg330Gly | |
| NM_001400246.1:c.988C>G | NP_001387175.1:p.Arg330Gly | |
| NM_001400247.1:c.988C>G | NP_001387176.1:p.Arg330Gly |