Linked Data
ClinVar Variation Id:
2157302
ClinVar RCV Id:
RCV003091136
dbSNP Id:
rs180784380
ExAC:
1:227171280 A / G
gnomAD v2:
1-227171280-A-G
gnomAD v3:
1-226983579-A-G
gnomAD v4:
1-226983579-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226983579A>G , CM000663.2:g.226983579A>G | GRCh38 |
| NC_000001.10:g.227171280A>G , CM000663.1:g.227171280A>G | GRCh37 |
| NC_000001.9:g.225237903A>G | NCBI36 |
| NG_012825.1:g.48343A>G | |
| NG_012825.2:g.91044A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366777.4:c.1108A>G MANE Select | ENSP00000355739.3:p.Ser370Gly | |
| ENST00000366779.6:c.*5835A>G | ENSP00000355741.2:n.*5835A>G | |
| ENST00000676884.1:c.*5957A>G | ENSP00000503200.1:n.*5957A>G | |
| ENST00000366777.3:c.1108A>G | ENSP00000355739.3:p.Ser370Gly | |
| ENST00000366778.5:c.952A>G | ENSP00000355740.1:p.Ser318Gly | |
| ENST00000366779.5:c.1108A>G | ENSP00000355741.1:p.Ser370Gly | |
| ENST00000478406.5:n.1604A>G | ||
| ENST00000479852.1:n.56A>G | ||
| ENST00000485462.5:n.498A>G | ||
| NM_020247.4:c.1108A>G | NP_064632.2:p.Ser370Gly | |
| XM_005273201.1:c.1108A>G | XP_005273258.1:p.Ser370Gly | |
| XM_011544238.1:c.1108A>G | XP_011542540.1:p.Ser370Gly | |
| XM_011544239.1:c.1108A>G | XP_011542541.1:p.Ser370Gly | |
| XM_011544240.1:c.1108A>G | XP_011542542.1:p.Ser370Gly | |
| XM_011544241.1:c.1108A>G | XP_011542543.1:p.Ser370Gly | |
| XM_011544239.2:c.1108A>G | XP_011542541.1:p.Ser370Gly | |
| XM_011544241.2:c.1108A>G | XP_011542543.1:p.Ser370Gly | |
| XM_017001852.1:c.1108A>G | XP_016857341.1:p.Ser370Gly | |
| XM_024448517.1:c.1108A>G | XP_024304285.1:p.Ser370Gly | |
| XM_024448518.1:c.1108A>G | XP_024304286.1:p.Ser370Gly | |
| NM_020247.5:c.1108A>G MANE Select | NP_064632.2:p.Ser370Gly |