Linked Data
dbSNP Id:
rs746077060
ExAC:
17:8025198 G / A
gnomAD v2:
17-8025198-G-A
gnomAD v4:
17-8121880-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121880G>A , CM000679.2:g.8121880G>A | GRCh38 |
| NC_000017.10:g.8025198G>A , CM000679.1:g.8025198G>A | GRCh37 |
| NC_000017.9:g.7965923G>A | NCBI36 |
| NG_015807.1:g.2037C>T | |
| NG_015816.1:g.7213C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.384C>T MANE Select | ENSP00000446205.2:p.His128= | |
| ENST00000317814.8:c.369C>T | ENSP00000314774.4:p.His123= | |
| ENST00000541682.6:c.384C>T | ENSP00000446205.2:p.His128= | |
| ENST00000577735.1:c.360C>T | ENSP00000462491.1:p.His120= | |
| NM_001165967.1:c.384C>T | NP_001159439.1:p.His128= | |
| NM_032580.3:c.369C>T | NP_115969.2:p.His123= | |
| XM_011524038.1:c.489C>T | XP_011522340.1:p.His163= | |
| XM_011524039.1:c.480C>T | XP_011522341.1:p.His160= | |
| XM_011524040.1:c.480C>T | XP_011522342.1:p.His160= | |
| XM_011524041.1:c.471C>T | XP_011522343.1:p.His157= | |
| XM_011524042.1:c.342C>T | XP_011522344.1:p.His114= | |
| XR_934203.1:n.69+2066G>A | ||
| XM_017025232.1:c.489C>T | XP_016880721.1:p.His163= | |
| XM_024451007.1:c.489C>T | XP_024306775.1:p.His163= | |
| NM_001165967.2:c.384C>T MANE Select | NP_001159439.1:p.His128= | |
| NM_032580.4:c.369C>T | NP_115969.2:p.His123= |