HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420575G>A , CM000666.2:g.99420575G>A | GRCh38 |
NC_000004.11:g.100341732G>A , CM000666.1:g.100341732G>A | GRCh37 |
NC_000004.10:g.100560755G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437033.7:c.783C>T MANE Select | ENSP00000414254.2:p.Asn261= | |
ENST00000209665.8:c.819C>T | ENSP00000209665.4:p.Asn273= | |
ENST00000437033.6:c.783C>T | ENSP00000414254.2:p.Asn261= | |
ENST00000476959.5:c.843C>T | ENSP00000420269.1:p.Asn281= | |
ENST00000482593.5:c.612C>T | ENSP00000420613.1:p.Asn204= | |
NM_000673.4:c.819C>T | NP_000664.2:p.Asn273= | |
NM_001166504.1:c.843C>T | NP_001159976.1:p.Asn281= | |
NM_000673.7:c.783C>T MANE Select | NP_000664.3:p.Asn261= | |
NM_001166504.2:c.843C>T | NP_001159976.1:p.Asn281= |