Linked Data
ClinVar Variation Id:
2730556
ClinVar RCV Id:
RCV003579765
dbSNP Id:
rs762653462
ExAC:
19:45515367 C / G
gnomAD v2:
19-45515367-C-G
gnomAD v3:
19-45012109-C-G
gnomAD v4:
19-45012109-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45012109C>G , CM000681.2:g.45012109C>G | GRCh38 |
| NC_000019.9:g.45515367C>G , CM000681.1:g.45515367C>G | GRCh37 |
| NC_000019.8:g.50207207C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.328C>G | ENSP00000423287.1:p.Arg110Gly | |
| ENST00000700471.1:c.175C>G | ENSP00000515004.1:p.Arg59Gly | |
| ENST00000221452.13:c.337C>G MANE Select | ENSP00000221452.7:p.Arg113Gly | |
| ENST00000221452.12:c.337C>G | ENSP00000221452.7:p.Arg113Gly | |
| ENST00000505236.1:c.328C>G | ENSP00000423287.1:p.Arg110Gly | |
| ENST00000509480.5:c.*424C>G | ENSP00000427348.1:n.*424C>G | |
| ENST00000625761.2:c.337C>G | ENSP00000485826.1:p.Arg113Gly | |
| NM_006509.3:c.337C>G | NP_006500.2:p.Arg113Gly | |
| XM_005259127.2:c.328C>G | XP_005259184.1:p.Arg110Gly | |
| XM_005259128.2:c.337C>G | XP_005259185.1:p.Arg113Gly | |
| XM_005259127.3:c.328C>G | XP_005259184.1:p.Arg110Gly | |
| NM_006509.4:c.337C>G MANE Select | NP_006500.2:p.Arg113Gly |