Linked Data
ClinVar Variation Id:
469929
dbSNP Id:
rs756346998
ExAC:
5:112174920 A / T
gnomAD v2:
5-112174920-A-T
gnomAD v4:
5-112839223-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839223A>T , CM000667.2:g.112839223A>T | GRCh38 |
| NC_000005.9:g.112174920A>T , CM000667.1:g.112174920A>T | GRCh37 |
| NC_000005.8:g.112202819A>T | NCBI36 |
| NG_008481.4:g.151703A>T , LRG_130:g.151703A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3294A>T | ENSP00000484935.2:n.3294A>T | |
| ENST00000504915.3:c.3683A>T | ENSP00000473355.2:p.His1228Leu | |
| ENST00000505350.2:c.*3635A>T | ENSP00000481752.1:n.*3635A>T | |
| ENST00000507379.6:c.3575A>T | ENSP00000423224.2:p.His1192Leu | |
| ENST00000509732.6:c.3629A>T | ENSP00000426541.2:p.His1210Leu | |
| ENST00000512211.7:c.3629A>T | ENSP00000423828.3:p.His1210Leu | |
| ENST00000257430.9:c.3629A>T MANE Select | ENSP00000257430.4:p.His1210Leu | |
| ENST00000257430.8:c.3629A>T | ENSP00000257430.4:p.His1210Leu | |
| ENST00000502371.2:c.1982A>T | ||
| ENST00000508376.6:c.3629A>T | ENSP00000427089.2:p.His1210Leu | |
| ENST00000508624.5:c.*2951A>T | ENSP00000424265.1:n.*2951A>T | |
| ENST00000512211.6:c.3629A>T | ENSP00000423828.2:p.His1210Leu | |
| ENST00000520401.1:c.230+10251A>T | ||
| NM_000038.5:c.3629A>T | NP_000029.2:p.His1210Leu | |
| NM_001127510.2:c.3629A>T | NP_001120982.1:p.His1210Leu | |
| NM_001127511.2:c.3575A>T | NP_001120983.2:p.His1192Leu | |
| NM_001354895.1:c.3629A>T | NP_001341824.1:p.His1210Leu | |
| NM_001354896.1:c.3683A>T | NP_001341825.1:p.His1228Leu | |
| NM_001354897.1:c.3659A>T | NP_001341826.1:p.His1220Leu | |
| NM_001354898.1:c.3554A>T | NP_001341827.1:p.His1185Leu | |
| NM_001354899.1:c.3545A>T | NP_001341828.1:p.His1182Leu | |
| NM_001354900.1:c.3506A>T | NP_001341829.1:p.His1169Leu | |
| NM_001354901.1:c.3452A>T | NP_001341830.1:p.His1151Leu | |
| NM_001354902.1:c.3356A>T | NP_001341831.1:p.His1119Leu | |
| NM_001354903.1:c.3326A>T | NP_001341832.1:p.His1109Leu | |
| NM_001354904.1:c.3251A>T | NP_001341833.1:p.His1084Leu | |
| NM_001354905.1:c.3149A>T | NP_001341834.1:p.His1050Leu | |
| NM_001354906.1:c.2780A>T | NP_001341835.1:p.His927Leu | |
| NM_000038.6:c.3629A>T MANE Select | NP_000029.2:p.His1210Leu | |
| NM_001127510.3:c.3629A>T | NP_001120982.1:p.His1210Leu | |
| NM_001127511.3:c.3575A>T | NP_001120983.2:p.His1192Leu | |
| NM_001354895.2:c.3629A>T | NP_001341824.1:p.His1210Leu | |
| NM_001354896.2:c.3683A>T | NP_001341825.1:p.His1228Leu | |
| NM_001354897.2:c.3659A>T | NP_001341826.1:p.His1220Leu | |
| NM_001354898.2:c.3554A>T | NP_001341827.1:p.His1185Leu | |
| NM_001354899.2:c.3545A>T | NP_001341828.1:p.His1182Leu | |
| NM_001354900.2:c.3506A>T | NP_001341829.1:p.His1169Leu | |
| NM_001354901.2:c.3452A>T | NP_001341830.1:p.His1151Leu | |
| NM_001354902.2:c.3356A>T | NP_001341831.1:p.His1119Leu | |
| NM_001354903.2:c.3326A>T | NP_001341832.1:p.His1109Leu | |
| NM_001354904.2:c.3251A>T | NP_001341833.1:p.His1084Leu | |
| NM_001354905.2:c.3149A>T | NP_001341834.1:p.His1050Leu | |
| NM_001354906.2:c.2780A>T | NP_001341835.1:p.His927Leu |