Linked Data
ClinVar Variation Id:
2150361
ClinVar RCV Id:
RCV003083405
dbSNP Id:
rs749104116
ExAC:
3:4681070 C / T
gnomAD v2:
3-4681070-C-T
gnomAD v3:
3-4639386-C-T
gnomAD v4:
3-4639386-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4639386C>T , CM000665.2:g.4639386C>T | GRCh38 |
| NC_000003.11:g.4681070C>T , CM000665.1:g.4681070C>T | GRCh37 |
| NC_000003.10:g.4656070C>T | NCBI36 |
| NG_016144.1:g.151039C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302640.13:c.282C>T | ENSP00000306253.9:p.His94= | |
| ENST00000354582.12:c.282C>T | ENSP00000346595.8:p.His94= | |
| ENST00000443694.5:c.282C>T | ENSP00000401671.2:p.His94= | |
| ENST00000354582.11:c.282C>T | ENSP00000346595.8:p.His94= | |
| ENST00000357086.10:c.282C>T | ENSP00000349597.4:p.His94= | |
| ENST00000443694.4:c.282C>T | ENSP00000401671.2:p.His94= | |
| ENST00000456211.8:c.282C>T | ENSP00000397885.2:p.His94= | |
| ENST00000467056.6:c.282C>T | ENSP00000496995.1:p.His94= | |
| ENST00000477577.2:n.444C>T | ||
| ENST00000491868.2:n.164C>T | ||
| ENST00000544951.6:c.282C>T | ENSP00000440564.1:p.His94= | |
| ENST00000648266.1:c.282C>T | ENSP00000498014.1:p.His94= | |
| ENST00000648309.1:c.282C>T | ENSP00000497026.1:p.His94= | |
| ENST00000649015.2:c.282C>T MANE Select | ENSP00000497605.1:p.His94= | |
| ENST00000649051.1:c.3C>T | ENSP00000497851.1:p.His1= | |
| ENST00000650294.1:c.282C>T | ENSP00000498056.1:p.His94= | |
| ENST00000302640.12:c.282C>T | ENSP00000306253.8:p.His94= | |
| ENST00000354582.10:c.282C>T | ENSP00000346595.7:p.His94= | |
| ENST00000357086.9:c.282C>T | ENSP00000349597.4:p.His94= | |
| ENST00000443694.3:c.282C>T | ENSP00000401671.2:p.His94= | |
| ENST00000456211.7:c.282C>T | ENSP00000397885.2:p.His94= | |
| ENST00000467056.5:n.630C>T | ||
| ENST00000477577.1:n.12C>T | ||
| ENST00000491868.1:n.241C>T | ||
| ENST00000544951.5:c.282C>T | ENSP00000440564.1:p.His94= | |
| NM_001099952.2:c.282C>T | NP_001093422.2:p.His94= | |
| NM_001168272.1:c.282C>T | NP_001161744.1:p.His94= | |
| NM_002222.5:c.282C>T | NP_002213.5:p.His94= | |
| XM_005265109.2:c.282C>T | XP_005265166.1:p.His94= | |
| XM_005265110.2:c.282C>T | XP_005265167.1:p.His94= | |
| XM_006713131.2:c.282C>T | XP_006713194.1:p.His94= | |
| XM_011533681.1:c.282C>T | XP_011531983.1:p.His94= | |
| XM_011533682.1:c.282C>T | XP_011531984.1:p.His94= | |
| XM_011533683.1:c.282C>T | XP_011531985.1:p.His94= | |
| XM_011533684.1:c.282C>T | XP_011531986.1:p.His94= | |
| XM_011533685.1:c.282C>T | XP_011531987.1:p.His94= | |
| XM_011533686.1:c.282C>T | XP_011531988.1:p.His94= | |
| XM_011533687.1:c.282C>T | XP_011531989.1:p.His94= | |
| XM_011533688.1:c.282C>T | XP_011531990.1:p.His94= | |
| XM_011533689.1:c.282C>T | XP_011531991.1:p.His94= | |
| XM_011533690.1:c.282C>T | XP_011531992.1:p.His94= | |
| XM_011533691.1:c.282C>T | XP_011531993.1:p.His94= | |
| XM_011533692.1:c.282C>T | XP_011531994.1:p.His94= | |
| XM_005265109.3:c.282C>T | XP_005265166.1:p.His94= | |
| XM_005265110.3:c.282C>T | XP_005265167.1:p.His94= | |
| XM_006713131.3:c.282C>T | XP_006713194.1:p.His94= | |
| XM_011533682.3:c.282C>T | XP_011531984.1:p.His94= | |
| XM_011533683.3:c.282C>T | XP_011531985.1:p.His94= | |
| XM_011533684.2:c.282C>T | XP_011531986.1:p.His94= | |
| XM_011533685.2:c.282C>T | XP_011531987.1:p.His94= | |
| XM_011533686.2:c.282C>T | XP_011531988.1:p.His94= | |
| XM_011533687.2:c.282C>T | XP_011531989.1:p.His94= | |
| XM_011533688.2:c.282C>T | XP_011531990.1:p.His94= | |
| XM_011533690.2:c.282C>T | XP_011531992.1:p.His94= | |
| XM_011533692.2:c.282C>T | XP_011531994.1:p.His94= | |
| XM_017006357.2:c.282C>T | XP_016861846.1:p.His94= | |
| XM_017006358.1:c.282C>T | XP_016861847.1:p.His94= | |
| NM_001099952.3:c.282C>T | NP_001093422.2:p.His94= | |
| NM_002222.6:c.282C>T | NP_002213.5:p.His94= | |
| NM_001099952.4:c.282C>T | NP_001093422.2:p.His94= | |
| NM_001168272.2:c.282C>T | NP_001161744.1:p.His94= | |
| NM_001378452.1:c.282C>T MANE Select | NP_001365381.1:p.His94= | |
| NM_002222.7:c.282C>T | NP_002213.5:p.His94= |