Linked Data
gnomAD v4:
6-33669007-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33669007C>G , CM000668.2:g.33669007C>G | GRCh38 |
| NC_000006.11:g.33636784C>G , CM000668.1:g.33636784C>G | GRCh37 |
| NC_000006.10:g.33744762C>G | NCBI36 |
| NG_027729.1:g.52629C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.2040C>G MANE Select | ENSP00000475177.1:p.His680Gln | |
| ENST00000374316.9:c.2040C>G | ENSP00000363435.4:p.His680Gln | |
| ENST00000605930.2:c.2040C>G | ENSP00000475177.1:p.His680Gln | |
| NM_002224.3:c.2040C>G | NP_002215.2:p.His680Gln | |
| XM_011514576.1:c.2109C>G | XP_011512878.1:p.His703Gln | |
| XM_011514577.1:c.1857C>G | XP_011512879.1:p.His619Gln | |
| XM_011514577.3:c.1857C>G | XP_011512879.1:p.His619Gln | |
| XM_017010832.1:c.2040C>G | XP_016866321.1:p.His680Gln | |
| NM_002224.4:c.2040C>G MANE Select | NP_002215.2:p.His680Gln |