Linked Data
dbSNP Id:
rs761655447
ExAC:
19:49206912 C / G
gnomAD v2:
19-49206912-C-G
gnomAD v3:
19-48703655-C-G
gnomAD v4:
19-48703655-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703655C>G , CM000681.2:g.48703655C>G | GRCh38 |
| NC_000019.9:g.49206912C>G , CM000681.1:g.49206912C>G | GRCh37 |
| NC_000019.8:g.53898724C>G | NCBI36 |
| NG_007511.1:g.12685C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.699C>G MANE Select | ENSP00000387498.2:p.Arg233= | |
| ENST00000522966.2:c.699C>G | ENSP00000430227.2:p.Arg233= | |
| ENST00000391876.5:c.699C>G | ENSP00000375748.4:p.Arg233= | |
| ENST00000425340.2:c.699C>G | ENSP00000387498.2:p.Arg233= | |
| NM_000511.5:c.699C>G | NP_000502.4:p.Arg233= | |
| NM_001097638.2:c.699C>G | NP_001091107.1:p.Arg233= | |
| NR_131188.1:n.194G>C | ||
| NM_000511.6:c.699C>G MANE Select | NP_000502.4:p.Arg233= | |
| NM_001097638.3:c.699C>G | NP_001091107.1:p.Arg233= |