Linked Data
dbSNP Id:
rs756988525
ExAC:
19:7117084 G / C
gnomAD v2:
19-7117084-G-C
gnomAD v4:
19-7117073-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7117073G>C , CM000681.2:g.7117073G>C | GRCh38 |
| NC_000019.9:g.7117084G>C , CM000681.1:g.7117084G>C | GRCh37 |
| NC_000019.8:g.7068084G>C | NCBI36 |
| NG_008852.2:g.181928C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.4132C>G MANE Select | ENSP00000303830.4:p.Arg1378Gly | |
| ENST00000302850.9:c.4132C>G | ENSP00000303830.4:p.Arg1378Gly | |
| ENST00000341500.9:c.4096C>G | ENSP00000342838.4:p.Arg1366Gly | |
| NM_000208.2:c.4132C>G | NP_000199.2:p.Arg1378Gly | |
| NM_000208.3:c.4132C>G | NP_000199.2:p.Arg1378Gly | |
| NM_001079817.1:c.4096C>G | NP_001073285.1:p.Arg1366Gly | |
| NM_001079817.2:c.4096C>G | NP_001073285.1:p.Arg1366Gly | |
| XM_011527988.1:c.4207C>G | XP_011526290.1:p.Arg1403Gly | |
| XM_011527989.1:c.4171C>G | XP_011526291.1:p.Arg1391Gly | |
| XM_011527988.2:c.4129C>G | XP_011526290.2:p.Arg1377Gly | |
| XM_011527989.3:c.4093C>G | XP_011526291.2:p.Arg1365Gly | |
| NM_000208.4:c.4132C>G MANE Select | NP_000199.2:p.Arg1378Gly | |
| NM_001079817.3:c.4096C>G | NP_001073285.1:p.Arg1366Gly |