Linked Data
gnomAD v4:
1-196995748-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995748A>T , CM000663.2:g.196995748A>T | GRCh38 |
| NC_000001.10:g.196964878A>T , CM000663.1:g.196964878A>T | GRCh37 |
| NC_000001.9:g.195231501A>T | NCBI36 |
| NG_016365.1:g.23212A>T , LRG_227:g.23212A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.384A>T | ENSP00000514393.1:p.Gln128His | |
| ENST00000699467.1:n.708A>T | ||
| ENST00000699468.1:c.-24-366A>T | ENSP00000514394.1:n.-24-366A>T | |
| ENST00000256785.5:c.639A>T MANE Select | ENSP00000256785.4:p.Gln213His | |
| ENST00000256785.4:c.639A>T | ENSP00000256785.4:p.Gln213His | |
| NM_030787.3:c.639A>T , LRG_227t1:c.639A>T | NP_110414.1:p.Gln213His | |
| XM_011510020.1:c.648A>T | XP_011508322.1:p.Gln216His | |
| XM_011510020.2:c.648A>T | XP_011508322.1:p.Gln216His | |
| NM_030787.4:c.639A>T MANE Select | NP_110414.1:p.Gln213His |