Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533617G>A , CM000681.2:g.7533617G>A | GRCh38 |
| NC_000019.9:g.7598503G>A , CM000681.1:g.7598503G>A | GRCh37 |
| NC_000019.8:g.7504503G>A | NCBI36 |
| NG_013374.1:g.4466G>A | |
| NG_015806.1:g.16008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1670G>A MANE Select | ENSP00000264079.5:p.Ser557Asn | |
| ENST00000264079.10:c.1670G>A | ENSP00000264079.5:p.Ser557Asn | |
| ENST00000394321.9:n.1985G>A | ||
| ENST00000599334.1:c.398G>A | ||
| ENST00000601870.1:c.23G>A | ||
| ENST00000602227.1:n.224G>A | ||
| NM_020533.2:c.1670G>A | NP_065394.1:p.Ser557Asn | |
| NM_020533.3:c.1670G>A MANE Select | NP_065394.1:p.Ser557Asn |