Linked Data
ClinVar Variation Id:
95372
dbSNP Id:
rs35898499
ExAC:
2:112656372 A / T
gnomAD v2:
2-112656372-A-T
gnomAD v3:
2-111898795-A-T
gnomAD v4:
2-111898795-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111898795A>T , CM000664.2:g.111898795A>T | GRCh38 |
| NC_000002.11:g.112656372A>T , CM000664.1:g.112656372A>T | GRCh37 |
| NC_000002.10:g.112372843A>T | NCBI36 |
| NG_011607.1:g.5182A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.60A>T MANE Select | ENSP00000295408.4:p.Arg20Ser | |
| ENST00000295408.8:c.60A>T | ENSP00000295408.4:p.Arg20Ser | |
| ENST00000409780.5:c.-48A>T | ENSP00000387277.1:n.-48A>T | |
| ENST00000421804.6:c.60A>T | ENSP00000389152.2:p.Arg20Ser | |
| ENST00000439966.5:c.60A>T | ENSP00000402129.1:p.Arg20Ser | |
| ENST00000616902.4:c.-1156A>T | ENSP00000482824.1:n.-1156A>T | |
| NM_006343.2:c.60A>T | NP_006334.2:p.Arg20Ser | |
| XM_005263565.3:c.60A>T | XP_005263622.1:p.Arg20Ser | |
| XM_005263568.3:c.60A>T | XP_005263625.1:p.Arg20Ser | |
| XM_005263565.4:c.60A>T | XP_005263622.1:p.Arg20Ser | |
| XM_005263568.4:c.60A>T | XP_005263625.1:p.Arg20Ser | |
| XM_017003165.2:c.-1208A>T | XP_016858654.1:n.-1208A>T | |
| NM_006343.3:c.60A>T MANE Select | NP_006334.2:p.Arg20Ser |