Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81206885T>A , CM000667.2:g.81206885T>A | GRCh38 |
| NC_000005.9:g.80502704T>A , CM000667.1:g.80502704T>A | GRCh37 |
| NC_000005.8:g.80538460T>A | NCBI36 |
| NG_030334.1:g.251197T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2947T>A MANE Select | ENSP00000265080.4:p.Leu983Ile | |
| ENST00000265080.8:c.2947T>A | ENSP00000265080.4:p.Leu983Ile | |
| ENST00000503795.1:c.2947T>A | ENSP00000421771.1:p.Leu983Ile | |
| NM_006909.2:c.2947T>A | NP_008840.1:p.Leu983Ile | |
| XM_017009682.2:c.2662T>A | XP_016865171.1:p.Leu888Ile | |
| XR_002956166.1:n.3063T>A | ||
| NM_006909.3:c.2947T>A MANE Select | NP_008840.1:p.Leu983Ile |