Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81206856A>T , CM000667.2:g.81206856A>T | GRCh38 |
| NC_000005.9:g.80502675A>T , CM000667.1:g.80502675A>T | GRCh37 |
| NC_000005.8:g.80538431A>T | NCBI36 |
| NG_030334.1:g.251168A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2918A>T MANE Select | ENSP00000265080.4:p.Gln973Leu | |
| ENST00000265080.8:c.2918A>T | ENSP00000265080.4:p.Gln973Leu | |
| ENST00000503795.1:c.2918A>T | ENSP00000421771.1:p.Gln973Leu | |
| NM_006909.2:c.2918A>T | NP_008840.1:p.Gln973Leu | |
| XM_017009682.2:c.2633A>T | XP_016865171.1:p.Gln878Leu | |
| XR_002956166.1:n.3034A>T | ||
| NM_006909.3:c.2918A>T MANE Select | NP_008840.1:p.Gln973Leu |