Linked Data
dbSNP Id:
rs1002859413
gnomAD v2:
7-100231099-C-T
gnomAD v3:
7-100633476-C-T
gnomAD v4:
7-100633476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633476C>T , CM000669.2:g.100633476C>T | GRCh38 |
| NC_000007.13:g.100231099C>T , CM000669.1:g.100231099C>T | GRCh37 |
| NC_000007.12:g.100069035C>T | NCBI36 |
| NG_007989.1:g.13075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.554G>A MANE Select | ENSP00000223051.3:p.Arg185His | |
| ENST00000223051.7:c.554G>A | ENSP00000223051.3:p.Arg185His | |
| ENST00000431692.5:c.554G>A | ENSP00000413905.1:p.Arg185His | |
| ENST00000462107.1:c.554G>A | ENSP00000420525.1:p.Arg185His | |
| ENST00000465294.5:n.559G>A | ||
| ENST00000475011.1:n.83G>A | ||
| ENST00000476304.5:n.175G>A | ||
| NM_001206855.1:c.41G>A | NP_001193784.1:p.Arg14His | |
| NM_003227.3:c.554G>A | NP_003218.2:p.Arg185His | |
| XM_005250553.3:c.554G>A | XP_005250610.1:p.Arg185His | |
| XM_005250554.3:c.554G>A | XP_005250611.1:p.Arg185His | |
| NM_001206855.2:c.41G>A | NP_001193784.1:p.Arg14His | |
| XM_005250553.4:c.554G>A | XP_005250610.1:p.Arg185His | |
| XM_017012573.1:c.554G>A | XP_016868062.1:p.Arg185His | |
| NM_003227.4:c.554G>A MANE Select | NP_003218.2:p.Arg185His | |
| NM_001206855.3:c.41G>A | NP_001193784.1:p.Arg14His |