Linked Data
ClinVar Variation Id:
211090
dbSNP Id:
rs34613633
ExAC:
1:231398585 A / T
gnomAD v2:
1-231398585-A-T
gnomAD v3:
1-231262839-A-T
gnomAD v4:
1-231262839-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231262839A>T , CM000663.2:g.231262839A>T | GRCh38 |
| NC_000001.10:g.231398585A>T , CM000663.1:g.231398585A>T | GRCh37 |
| NC_000001.9:g.229465208A>T | NCBI36 |
| NG_008240.1:g.26667A>T | |
| NG_008240.2:g.26667A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.555A>T MANE Select | ENSP00000355607.4:p.Ile185= | |
| ENST00000644483.1:c.*241A>T | ENSP00000496537.1:n.*241A>T | |
| ENST00000366647.8:c.555A>T | ENSP00000355607.4:p.Ile185= | |
| ENST00000416000.1:c.525A>T | ENSP00000411640.1:p.Ile175= | |
| ENST00000436239.5:c.372A>T | ENSP00000402811.1:p.Ile124= | |
| NM_001316350.1:c.372A>T | NP_001303279.1:p.Ile124= | |
| NM_014236.3:c.555A>T | NP_055051.1:p.Ile185= | |
| XM_005273313.3:c.552A>T | XP_005273370.1:p.Ile184= | |
| XM_011544303.1:c.228A>T | XP_011542605.1:p.Ile76= | |
| XM_011544304.1:c.228A>T | XP_011542606.1:p.Ile76= | |
| XM_005273313.4:c.552A>T | XP_005273370.1:p.Ile184= | |
| XM_011544303.3:c.228A>T | XP_011542605.1:p.Ile76= | |
| XM_011544304.2:c.228A>T | XP_011542606.1:p.Ile76= | |
| NM_014236.4:c.555A>T MANE Select | NP_055051.1:p.Ile185= | |
| NM_001316350.2:c.372A>T | NP_001303279.1:p.Ile124= |