Linked Data
ClinVar Variation Id:
2634347
ClinVar RCV Id:
RCV003392764
dbSNP Id:
rs751522255
ExAC:
4:122775916 T / A
gnomAD v2:
4-122775916-T-A
gnomAD v3:
4-121854761-T-A
gnomAD v4:
4-121854761-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121854761T>A , CM000666.2:g.121854761T>A | GRCh38 |
| NC_000004.11:g.122775916T>A , CM000666.1:g.122775916T>A | GRCh37 |
| NC_000004.10:g.122995366T>A | NCBI36 |
| NG_009111.1:g.20727A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.661A>T MANE Select | ENSP00000264499.4:p.Ile221Phe | |
| ENST00000264499.8:c.661A>T | ENSP00000264499.4:p.Ile221Phe | |
| ENST00000506636.1:c.661A>T | ENSP00000423626.1:p.Ile221Phe | |
| NM_018190.3:c.661A>T | NP_060660.2:p.Ile221Phe | |
| NM_176824.2:c.661A>T | NP_789794.1:p.Ile221Phe | |
| XM_005263106.2:c.664A>T | XP_005263163.1:p.Ile222Phe | |
| XM_011532079.1:c.709A>T | XP_011530381.1:p.Ile237Phe | |
| XM_011532080.1:c.706A>T | XP_011530382.1:p.Ile236Phe | |
| XM_011532081.1:c.709A>T | XP_011530383.1:p.Ile237Phe | |
| XM_005263106.4:c.664A>T | XP_005263163.1:p.Ile222Phe | |
| XM_011532079.3:c.709A>T | XP_011530381.1:p.Ile237Phe | |
| XM_011532080.3:c.706A>T | XP_011530382.1:p.Ile236Phe | |
| XM_011532081.3:c.709A>T | XP_011530383.1:p.Ile237Phe | |
| XM_017008357.2:c.661A>T | XP_016863846.1:p.Ile221Phe | |
| XM_017008358.2:c.664A>T | XP_016863847.1:p.Ile222Phe | |
| NM_176824.3:c.661A>T MANE Select | NP_789794.1:p.Ile221Phe | |
| NM_018190.4:c.661A>T | NP_060660.2:p.Ile221Phe |