Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530330C>G , CM000681.2:g.7530330C>G | GRCh38 |
| NC_000019.9:g.7595216C>G , CM000681.1:g.7595216C>G | GRCh37 |
| NC_000019.8:g.7501216C>G | NCBI36 |
| NG_013374.1:g.1179C>G | |
| NG_015806.1:g.12721C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1404C>G MANE Select | ENSP00000264079.5:p.Ile468Met | |
| ENST00000264079.10:c.1404C>G | ENSP00000264079.5:p.Ile468Met | |
| ENST00000394321.9:n.1719C>G | ||
| ENST00000594692.1:n.400C>G | ||
| ENST00000595860.5:n.587C>G | ||
| ENST00000599334.1:c.237-105C>G | ||
| NM_020533.2:c.1404C>G | NP_065394.1:p.Ile468Met | |
| NM_020533.3:c.1404C>G MANE Select | NP_065394.1:p.Ile468Met |