Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529103C>A , CM000681.2:g.7529103C>A | GRCh38 |
| NC_000019.9:g.7593989C>A , CM000681.1:g.7593989C>A | GRCh37 |
| NC_000019.8:g.7499989C>A | NCBI36 |
| NG_015806.1:g.11494C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1137C>A MANE Select | ENSP00000264079.5:p.Asn379Lys | |
| ENST00000264079.10:c.1137C>A | ENSP00000264079.5:p.Asn379Lys | |
| ENST00000394321.9:n.1452C>A | ||
| ENST00000594692.1:n.133C>A | ||
| ENST00000595860.5:n.320C>A | ||
| ENST00000599334.1:c.14C>A | ||
| NM_020533.2:c.1137C>A | NP_065394.1:p.Asn379Lys | |
| NM_020533.3:c.1137C>A MANE Select | NP_065394.1:p.Asn379Lys |