Linked Data
dbSNP Id:
rs774417734
ExAC:
19:7117158 C / T
gnomAD v2:
19-7117158-C-T
gnomAD v3:
19-7117147-C-T
gnomAD v4:
19-7117147-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7117147C>T , CM000681.2:g.7117147C>T | GRCh38 |
| NC_000019.9:g.7117158C>T , CM000681.1:g.7117158C>T | GRCh37 |
| NC_000019.8:g.7068158C>T | NCBI36 |
| NG_008852.2:g.181854G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.4058G>A MANE Select | ENSP00000303830.4:p.Arg1353Gln | |
| ENST00000302850.9:c.4058G>A | ENSP00000303830.4:p.Arg1353Gln | |
| ENST00000341500.9:c.4022G>A | ENSP00000342838.4:p.Arg1341Gln | |
| NM_000208.2:c.4058G>A | NP_000199.2:p.Arg1353Gln | |
| NM_000208.3:c.4058G>A | NP_000199.2:p.Arg1353Gln | |
| NM_001079817.1:c.4022G>A | NP_001073285.1:p.Arg1341Gln | |
| NM_001079817.2:c.4022G>A | NP_001073285.1:p.Arg1341Gln | |
| XM_011527988.1:c.4133G>A | XP_011526290.1:p.Arg1378Gln | |
| XM_011527989.1:c.4097G>A | XP_011526291.1:p.Arg1366Gln | |
| XM_011527988.2:c.4055G>A | XP_011526290.2:p.Arg1352Gln | |
| XM_011527989.3:c.4019G>A | XP_011526291.2:p.Arg1340Gln | |
| NM_000208.4:c.4058G>A MANE Select | NP_000199.2:p.Arg1353Gln | |
| NM_001079817.3:c.4022G>A | NP_001073285.1:p.Arg1341Gln |