HGVS | Genome Assembly |
---|---|
NC_000019.10:g.615984T>G , CM000681.2:g.615984T>G | GRCh38 |
NC_000019.9:g.615984T>G , CM000681.1:g.615984T>G | GRCh37 |
NC_000019.8:g.566984T>G | NCBI36 |
NG_023049.1:g.22585A>C | |
NG_052810.1:g.31092T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251287.3:c.2180T>G MANE Select | ENSP00000251287.1:p.Ile727Ser | |
ENST00000251287.2:c.2180T>G | ENSP00000251287.1:p.Ile727Ser | |
NM_001194.3:c.2180T>G | NP_001185.3:p.Ile727Ser | |
NM_001194.4:c.2180T>G MANE Select | NP_001185.3:p.Ile727Ser |