Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17356124G>T , CM000663.2:g.17356124G>T | GRCh38 |
| NC_000001.10:g.17682619G>T , CM000663.1:g.17682619G>T | GRCh37 |
| NC_000001.9:g.17555206G>T | NCBI36 |
| NG_023261.2:g.52935G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375448.4:c.1452G>T MANE Select | ENSP00000364597.4:p.Arg484Ser | |
| ENST00000467001.1:n.353G>T | ||
| ENST00000487048.5:n.419G>T | ||
| NM_012387.2:c.1452G>T | NP_036519.2:p.Arg484Ser | |
| XM_011541150.1:c.1266G>T | XP_011539452.1:p.Arg422Ser | |
| XM_011541151.1:c.1156-233G>T | XP_011539453.1:n.1156-233G>T | |
| XM_011541152.1:c.915G>T | XP_011539454.1:p.Arg305Ser | |
| XM_011541157.1:c.561G>T | XP_011539459.1:p.Arg187Ser | |
| NM_012387.3:c.1452G>T MANE Select | NP_036519.2:p.Arg484Ser |