Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81206886T>C , CM000667.2:g.81206886T>C | GRCh38 |
| NC_000005.9:g.80502705T>C , CM000667.1:g.80502705T>C | GRCh37 |
| NC_000005.8:g.80538461T>C | NCBI36 |
| NG_030334.1:g.251198T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2948T>C MANE Select | ENSP00000265080.4:p.Leu983Ser | |
| ENST00000265080.8:c.2948T>C | ENSP00000265080.4:p.Leu983Ser | |
| ENST00000503795.1:c.2948T>C | ENSP00000421771.1:p.Leu983Ser | |
| NM_006909.2:c.2948T>C | NP_008840.1:p.Leu983Ser | |
| XM_017009682.2:c.2663T>C | XP_016865171.1:p.Leu888Ser | |
| XR_002956166.1:n.3064T>C | ||
| NM_006909.3:c.2948T>C MANE Select | NP_008840.1:p.Leu983Ser |