Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81206872C>A , CM000667.2:g.81206872C>A | GRCh38 |
| NC_000005.9:g.80502691C>A , CM000667.1:g.80502691C>A | GRCh37 |
| NC_000005.8:g.80538447C>A | NCBI36 |
| NG_030334.1:g.251184C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2934C>A MANE Select | ENSP00000265080.4:p.Asp978Glu | |
| ENST00000265080.8:c.2934C>A | ENSP00000265080.4:p.Asp978Glu | |
| ENST00000503795.1:c.2934C>A | ENSP00000421771.1:p.Asp978Glu | |
| NM_006909.2:c.2934C>A | NP_008840.1:p.Asp978Glu | |
| XM_017009682.2:c.2649C>A | XP_016865171.1:p.Asp883Glu | |
| XR_002956166.1:n.3050C>A | ||
| NM_006909.3:c.2934C>A MANE Select | NP_008840.1:p.Asp978Glu |