Linked Data
dbSNP Id:
rs553102927
ExAC:
2:242707141 C / T
gnomAD v2:
2-242707141-C-T
gnomAD v3:
2-241767726-C-T
gnomAD v4:
2-241767726-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767726C>T , CM000664.2:g.241767726C>T | GRCh38 |
| NC_000002.11:g.242707141C>T , CM000664.1:g.242707141C>T | GRCh37 |
| NC_000002.10:g.242355814C>T | NCBI36 |
| NG_012012.1:g.38112C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1323C>T MANE Select | ENSP00000315351.4:p.His441= | |
| ENST00000321264.8:c.1323C>T | ENSP00000315351.4:p.His441= | |
| ENST00000400769.6:c.*73C>T | ENSP00000383580.2:n.*73C>T | |
| ENST00000403782.5:c.921C>T | ENSP00000384723.1:p.His307= | |
| ENST00000436747.5:c.*2559C>T | ENSP00000400212.1:n.*2559C>T | |
| ENST00000445308.1:c.719C>T | ||
| ENST00000468064.5:n.1213C>T | ||
| ENST00000470343.5:n.804C>T | ||
| ENST00000473126.1:n.522C>T | ||
| ENST00000486953.5:n.1147C>T | ||
| ENST00000610344.1:c.*167C>T | ENSP00000481906.1:n.*167C>T | |
| NM_001287249.1:c.921C>T | NP_001274178.1:p.His307= | |
| NM_152783.4:c.1323C>T | NP_689996.4:p.His441= | |
| NR_109778.1:n.1245C>T | ||
| XM_011511734.1:c.1443C>T | XP_011510036.1:p.His481= | |
| XM_011511735.1:c.1401C>T | XP_011510037.1:p.His467= | |
| XM_011511736.1:c.1365C>T | XP_011510038.1:p.His455= | |
| XM_011511744.1:c.*55C>T | XP_011510046.1:n.*55C>T | |
| XM_011511750.1:c.1235C>T | XP_011510052.1:p.Thr412Ile | |
| XM_011511754.1:c.882C>T | XP_011510056.1:p.His294= | |
| XM_011511755.1:c.873C>T | XP_011510057.1:p.His291= | |
| XM_011511756.1:c.870C>T | XP_011510058.1:p.His290= | |
| XR_923004.1:n.1955C>T | ||
| XR_923007.1:n.1665C>T | ||
| XR_923011.1:n.1766C>T | ||
| NM_001352824.1:c.762C>T | NP_001339753.1:p.His254= | |
| XM_011511734.2:c.1443C>T | XP_011510036.1:p.His481= | |
| XM_011511735.2:c.1401C>T | XP_011510037.1:p.His467= | |
| XM_011511736.2:c.1365C>T | XP_011510038.1:p.His455= | |
| XM_011511744.2:c.*55C>T | XP_011510046.1:n.*55C>T | |
| XM_011511750.3:c.1235C>T | XP_011510052.1:p.Thr412Ile | |
| XM_011511756.2:c.870C>T | XP_011510058.1:p.His290= | |
| XM_024453102.1:c.1215C>T | XP_024308870.1:p.His405= | |
| XR_001738918.2:n.1697C>T | ||
| XR_001738919.2:n.1631C>T | ||
| XR_923004.3:n.1954C>T | ||
| XR_923007.3:n.1664C>T | ||
| XR_923011.3:n.1765C>T | ||
| NM_152783.5:c.1323C>T MANE Select | NP_689996.4:p.His441= | |
| NM_001287249.2:c.921C>T | NP_001274178.1:p.His307= | |
| NM_001352824.2:c.762C>T | NP_001339753.1:p.His254= | |
| NR_109778.2:n.1194C>T |