Linked Data
ClinVar Variation Id:
204234
ClinVar RCV Id:
RCV000186441
dbSNP Id:
rs180177312
ExAC:
9:37428554 G / A
gnomAD v2:
9-37428554-G-A
gnomAD v3:
9-37428557-G-A
gnomAD v4:
9-37428557-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37428557G>A , CM000671.2:g.37428557G>A | GRCh38 |
| NC_000009.11:g.37428554G>A , CM000671.1:g.37428554G>A | GRCh37 |
| NC_000009.10:g.37418554G>A | NCBI36 |
| NG_008135.1:g.10848G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.478G>A MANE Select | ENSP00000313432.6:p.Gly160Arg | |
| ENST00000318158.10:c.478G>A | ENSP00000313432.6:p.Gly160Arg | |
| ENST00000377824.8:n.515G>A | ||
| ENST00000460882.5:n.505G>A | ||
| ENST00000480596.5:n.20G>A | ||
| ENST00000491488.5:n.183G>A | ||
| ENST00000493368.5:n.535G>A | ||
| ENST00000497693.1:n.852G>A | ||
| ENST00000607784.1:c.478G>A | ENSP00000475569.1:p.Gly160Arg | |
| NM_012203.1:c.478G>A | NP_036335.1:p.Gly160Arg | |
| XM_005251631.1:c.157G>A | XP_005251688.1:p.Gly53Arg | |
| XM_011518073.1:c.-285G>A | XP_011516375.1:n.-285G>A | |
| XR_929374.1:n.563G>A | ||
| XM_017015320.2:c.478G>A | XP_016870809.1:p.Gly160Arg | |
| XM_017015321.2:c.478G>A | XP_016870810.1:p.Gly160Arg | |
| XM_017015323.2:c.-285G>A | XP_016870812.1:n.-285G>A | |
| XM_024447716.1:c.751G>A | XP_024303484.1:p.Gly251Arg | |
| XM_024447717.1:c.751G>A | XP_024303485.1:p.Gly251Arg | |
| XR_002956828.1:n.766G>A | ||
| XR_002956829.1:n.766G>A | ||
| XR_002956830.1:n.537G>A | ||
| XR_002956831.1:n.212G>A | ||
| XR_002956832.1:n.537G>A | ||
| NM_012203.2:c.478G>A MANE Select | NP_036335.1:p.Gly160Arg |