Linked Data
dbSNP Id:
rs765205410
ExAC:
19:49206871 C / G
gnomAD v2:
19-49206871-C-G
gnomAD v3:
19-48703614-C-G
gnomAD v4:
19-48703614-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703614C>G , CM000681.2:g.48703614C>G | GRCh38 |
| NC_000019.9:g.49206871C>G , CM000681.1:g.49206871C>G | GRCh37 |
| NC_000019.8:g.53898683C>G | NCBI36 |
| NG_007511.1:g.12644C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.658C>G MANE Select | ENSP00000387498.2:p.Arg220Gly | |
| ENST00000522966.2:c.658C>G | ENSP00000430227.2:p.Arg220Gly | |
| ENST00000391876.5:c.658C>G | ENSP00000375748.4:p.Arg220Gly | |
| ENST00000425340.2:c.658C>G | ENSP00000387498.2:p.Arg220Gly | |
| ENST00000522966.1:c.658C>G | ENSP00000430227.1:p.Arg220Gly | |
| NM_000511.5:c.658C>G | NP_000502.4:p.Arg220Gly | |
| NM_001097638.2:c.658C>G | NP_001091107.1:p.Arg220Gly | |
| NR_131188.1:n.235G>C | ||
| NM_000511.6:c.658C>G MANE Select | NP_000502.4:p.Arg220Gly | |
| NM_001097638.3:c.658C>G | NP_001091107.1:p.Arg220Gly |