Linked Data
ClinVar Variation Id:
986177
ClinVar RCV Id:
RCV001267454
dbSNP Id:
rs954124678
gnomAD v2:
12-50479300-C-G
gnomAD v3:
12-50085517-C-G
gnomAD v4:
12-50085517-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50085517C>G , CM000674.2:g.50085517C>G | GRCh38 |
| NC_000012.11:g.50479300C>G , CM000674.1:g.50479300C>G | GRCh37 |
| NC_000012.10:g.48765567C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394963.9:c.148C>G MANE Select | ENSP00000378414.4:p.Arg50Gly | |
| ENST00000381513.8:c.148C>G | ENSP00000370924.4:p.Arg50Gly | |
| ENST00000394963.8:c.148C>G | ENSP00000378414.4:p.Arg50Gly | |
| ENST00000547247.5:n.176C>G | ||
| ENST00000547637.1:n.165C>G | ||
| ENST00000550477.5:c.148C>G | ENSP00000448030.1:p.Arg50Gly | |
| ENST00000551966.5:c.148C>G | ENSP00000447386.1:p.Arg50Gly | |
| NM_003076.4:c.148C>G | NP_003067.3:p.Arg50Gly | |
| NM_139071.2:c.148C>G | NP_620710.2:p.Arg50Gly | |
| XM_005269107.3:c.148C>G | XP_005269164.2:p.Arg50Gly | |
| XM_011538695.1:c.148C>G | XP_011536997.1:p.Arg50Gly | |
| XR_944683.1:n.318C>G | ||
| XR_944684.1:n.318C>G | ||
| XM_005269107.4:c.148C>G | XP_005269164.2:p.Arg50Gly | |
| XM_011538695.2:c.148C>G | XP_011536997.1:p.Arg50Gly | |
| XR_944683.2:n.282C>G | ||
| XR_944684.2:n.282C>G | ||
| NM_003076.5:c.148C>G MANE Select | NP_003067.3:p.Arg50Gly | |
| NM_139071.3:c.148C>G | NP_620710.2:p.Arg50Gly |