Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31622891G>T , CM000668.2:g.31622891G>T | GRCh38 |
| NC_000006.11:g.31590668G>T , CM000668.1:g.31590668G>T | GRCh37 |
| NC_000006.10:g.31698647G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.102G>T MANE Select | ENSP00000365201.2:p.Gln34His | |
| ENST00000376007.8:c.102G>T | ENSP00000365175.4:p.Gln34His | |
| ENST00000376033.2:c.102G>T | ENSP00000365201.2:p.Gln34His | |
| ENST00000469577.5:n.136-1370G>T | ||
| NM_004638.3:c.102G>T | NP_004629.3:p.Gln34His | |
| NM_080686.2:c.102G>T | NP_542417.2:p.Gln34His | |
| XM_011514890.1:c.102G>T | XP_011513192.1:p.Gln34His | |
| XM_017011274.1:c.102G>T | XP_016866763.1:p.Gln34His | |
| NM_004638.4:c.102G>T MANE Select | NP_004629.3:p.Gln34His | |
| NM_080686.3:c.102G>T | NP_542417.2:p.Gln34His |