Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17356127G>T , CM000663.2:g.17356127G>T | GRCh38 |
| NC_000001.10:g.17682622G>T , CM000663.1:g.17682622G>T | GRCh37 |
| NC_000001.9:g.17555209G>T | NCBI36 |
| NG_023261.2:g.52938G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375448.4:c.1455G>T MANE Select | ENSP00000364597.4:p.Lys485Asn | |
| ENST00000467001.1:n.356G>T | ||
| ENST00000487048.5:n.422G>T | ||
| NM_012387.2:c.1455G>T | NP_036519.2:p.Lys485Asn | |
| XM_011541150.1:c.1269G>T | XP_011539452.1:p.Lys423Asn | |
| XM_011541151.1:c.1156-230G>T | XP_011539453.1:n.1156-230G>T | |
| XM_011541152.1:c.918G>T | XP_011539454.1:p.Lys306Asn | |
| XM_011541157.1:c.564G>T | XP_011539459.1:p.Lys188Asn | |
| NM_012387.3:c.1455G>T MANE Select | NP_036519.2:p.Lys485Asn |