Linked Data
dbSNP Id:
rs755159392
ExAC:
5:147805132 C / T
gnomAD v2:
5-147805132-C-T
gnomAD v3:
5-148425569-C-T
gnomAD v4:
5-148425569-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148425569C>T , CM000667.2:g.148425569C>T | GRCh38 |
| NC_000005.9:g.147805132C>T , CM000667.1:g.147805132C>T | GRCh37 |
| NC_000005.8:g.147785325C>T | NCBI36 |
| NG_033871.1:g.46635C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340253.10:c.1786C>T MANE Select | ENSP00000342023.6:p.His596Tyr | |
| ENST00000296701.10:c.1786C>T | ENSP00000296701.6:p.His596Tyr | |
| ENST00000340253.9:c.1786C>T | ENSP00000342023.5:p.His596Tyr | |
| ENST00000394370.7:c.1786C>T | ENSP00000377895.3:p.His596Tyr | |
| ENST00000513826.1:c.1786C>T | ENSP00000426410.1:p.His596Tyr | |
| ENST00000514832.1:n.417C>T | ||
| NM_001271723.1:c.1786C>T | NP_001258652.1:p.His596Tyr | |
| NM_030793.4:c.1786C>T | NP_110420.3:p.His596Tyr | |
| XM_005268513.1:c.1786C>T | XP_005268570.1:p.His596Tyr | |
| XM_006714797.1:c.1786C>T | XP_006714860.1:p.His596Tyr | |
| XM_011537683.1:c.688C>T | XP_011535985.1:p.His230Tyr | |
| XM_011537684.1:c.586C>T | XP_011535986.1:p.His196Tyr | |
| NM_205836.2:c.1786C>T | NP_995308.1:p.His596Tyr | |
| XM_006714797.2:c.1786C>T | XP_006714860.1:p.His596Tyr | |
| XM_011537684.3:c.586C>T | XP_011535986.1:p.His196Tyr | |
| XM_017009899.1:c.688C>T | XP_016865388.1:p.His230Tyr | |
| XM_017009900.2:c.586C>T | XP_016865389.1:p.His196Tyr | |
| XM_017009901.2:c.688C>T | XP_016865390.1:p.His230Tyr | |
| XM_017009902.2:c.586C>T | XP_016865391.1:p.His196Tyr | |
| XM_024446223.1:c.1786C>T | XP_024301991.1:p.His596Tyr | |
| XR_001742284.1:n.1932C>T | ||
| NM_030793.5:c.1786C>T | NP_110420.3:p.His596Tyr | |
| NM_205836.3:c.1786C>T MANE Select | NP_995308.1:p.His596Tyr | |
| NM_001271723.2:c.1786C>T | NP_001258652.1:p.His596Tyr |