Linked Data
dbSNP Id:
rs780644260
gnomAD v2:
18-50432610-A-T
gnomAD v3:
18-52906240-A-T
gnomAD v4:
18-52906240-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52906240A>T , CM000680.2:g.52906240A>T | GRCh38 |
| NC_000018.9:g.50432610A>T , CM000680.1:g.50432610A>T | GRCh37 |
| NC_000018.8:g.48686608A>T | NCBI36 |
| NG_013341.1:g.571069A>T | |
| NG_013341.2:g.571069A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.609A>T MANE Select | ENSP00000389140.2:p.Gln203His | |
| ENST00000304775.12:c.410A>T | ||
| ENST00000412726.5:c.540A>T | ENSP00000397322.2:p.Gln180His | |
| ENST00000442544.6:c.609A>T | ENSP00000389140.2:p.Gln203His | |
| ENST00000579349.1:c.530A>T | ||
| ENST00000580024.1:n.522A>T | ||
| ENST00000581559.1:c.530A>T | ENSP00000463463.1:n.530A>T | |
| NM_005215.3:c.609A>T | NP_005206.2:p.Gln203His | |
| XM_011525843.1:c.609A>T | XP_011524145.1:p.Gln203His | |
| XM_011525845.1:c.609A>T | XP_011524147.1:p.Gln203His | |
| XM_011525846.1:c.609A>T | XP_011524148.1:p.Gln203His | |
| XM_017025568.1:c.609A>T | XP_016881057.1:p.Gln203His | |
| XM_017025569.1:c.609A>T | XP_016881058.1:p.Gln203His | |
| NM_005215.4:c.609A>T MANE Select | NP_005206.2:p.Gln203His |