Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29399258T>G , CM000685.2:g.29399258T>G | GRCh38 |
| NC_000023.10:g.29417375T>G , CM000685.1:g.29417375T>G | GRCh37 |
| NC_000023.9:g.29327296T>G | NCBI36 |
| NG_008292.1:g.816695T>G | |
| NG_008292.2:g.816695T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.653T>G MANE Select | ENSP00000368278.1:p.Leu218Ter | |
| ENST00000378993.5:c.653T>G | ENSP00000368278.1:p.Leu218Ter | |
| NM_014271.3:c.653T>G | NP_055086.1:p.Leu218Ter | |
| XM_005274441.1:c.653T>G | XP_005274498.1:p.Leu218Ter | |
| XM_011545445.1:c.653T>G | XP_011543747.1:p.Leu218Ter | |
| XM_017029240.1:c.653T>G | XP_016884729.1:p.Leu218Ter | |
| XM_017029241.1:c.275T>G | XP_016884730.1:p.Leu92Ter | |
| NM_014271.4:c.653T>G MANE Select | NP_055086.1:p.Leu218Ter |