Linked Data
ClinVar Variation Id:
361477
dbSNP Id:
rs149393791
ExAC:
8:11405588 C / G
gnomAD v2:
8-11405588-C-G
gnomAD v3:
8-11548079-C-G
gnomAD v4:
8-11548079-C-G
COSMIC:
COSM1686044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11548079C>G , CM000670.2:g.11548079C>G | GRCh38 |
| NC_000008.10:g.11405588C>G , CM000670.1:g.11405588C>G | GRCh37 |
| NC_000008.9:g.11442997C>G | NCBI36 |
| NG_023543.1:g.59068C>G | |
| NG_023543.2:g.59068C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.374C>G | ||
| ENST00000696154.1:c.10C>G | ENSP00000512445.1:p.Arg4Gly | |
| ENST00000259089.9:c.223C>G MANE Select | ENSP00000259089.4:p.Arg75Gly | |
| ENST00000645242.1:c.10C>G | ENSP00000494690.1:p.Arg4Gly | |
| ENST00000259089.8:c.223C>G | ENSP00000259089.4:p.Arg75Gly | |
| ENST00000529894.1:c.10C>G | ENSP00000433663.1:p.Arg4Gly | |
| ENST00000533828.1:n.421C>G | ||
| NM_001715.2:c.223C>G | NP_001706.2:p.Arg75Gly | |
| XM_011543824.1:c.223C>G | XP_011542126.1:p.Arg75Gly | |
| XM_011543825.1:c.223C>G | XP_011542127.1:p.Arg75Gly | |
| XM_011543826.1:c.223C>G | XP_011542128.1:p.Arg75Gly | |
| XM_011543827.1:c.10C>G | XP_011542129.1:p.Arg4Gly | |
| XM_011543828.1:c.223C>G | XP_011542130.1:p.Arg75Gly | |
| XM_011543829.1:c.223C>G | XP_011542131.1:p.Arg75Gly | |
| NM_001330465.1:c.10C>G | NP_001317394.1:p.Arg4Gly | |
| XM_011543825.3:c.223C>G | XP_011542127.1:p.Arg75Gly | |
| XM_011543828.3:c.223C>G | XP_011542130.1:p.Arg75Gly | |
| XM_011543829.3:c.223C>G | XP_011542131.1:p.Arg75Gly | |
| NM_001715.3:c.223C>G MANE Select | NP_001706.2:p.Arg75Gly | |
| NM_001330465.2:c.10C>G | NP_001317394.1:p.Arg4Gly |