Linked Data
dbSNP Id:
rs772860949
ExAC:
1:155264430 G / C
gnomAD v2:
1-155264430-G-C
gnomAD v4:
1-155294639-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155294639G>C , CM000663.2:g.155294639G>C | GRCh38 |
| NC_000001.10:g.155264430G>C , CM000663.1:g.155264430G>C | GRCh37 |
| NC_000001.9:g.153531054G>C | NCBI36 |
| NG_011677.1:g.11796C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.808C>G MANE Select | ENSP00000339933.4:p.Arg270Gly | |
| ENST00000342741.4:c.808C>G | ENSP00000339933.4:p.Arg270Gly | |
| ENST00000392414.7:c.715C>G | ENSP00000376214.3:p.Arg239Gly | |
| NM_000298.5:c.808C>G | NP_000289.1:p.Arg270Gly | |
| NM_181871.3:c.715C>G | NP_870986.1:p.Arg239Gly | |
| XM_005245266.3:c.967C>G | XP_005245323.1:p.Arg323Gly | |
| XM_006711386.2:c.616C>G | XP_006711449.1:p.Arg206Gly | |
| XM_011509639.1:c.967C>G | XP_011507941.1:p.Arg323Gly | |
| XM_011509640.1:c.616C>G | XP_011507942.1:p.Arg206Gly | |
| NM_000298.6:c.808C>G MANE Select | NP_000289.1:p.Arg270Gly | |
| XM_006711386.4:c.616C>G | XP_006711449.1:p.Arg206Gly | |
| XM_011509640.3:c.616C>G | XP_011507942.1:p.Arg206Gly | |
| XM_017001493.1:c.808C>G | XP_016856982.1:p.Arg270Gly | |
| NM_181871.4:c.715C>G | NP_870986.1:p.Arg239Gly |