HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919667C>A , CM000679.2:g.74919667C>A | GRCh38 |
NC_000017.10:g.72915762C>A , CM000679.1:g.72915762C>A | GRCh37 |
NC_000017.9:g.70427357C>A | NCBI36 |
NG_007882.1:g.8590G>T | |
NG_033062.1:g.393C>A | |
NG_007882.2:g.8597G>T | |
NG_033062.2:g.393C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.1169G>T MANE Select | ENSP00000480279.1:p.Ser390Ile | |
ENST00000579243.1:c.*768G>T | ENSP00000462568.1:n.*768G>T | |
ENST00000614341.4:c.1169G>T | ENSP00000480279.1:p.Ser390Ile | |
NM_001282489.2:c.860G>T | NP_001269418.1:p.Ser287Ile | |
NM_173477.4:c.1169G>T | NP_775748.2:p.Ser390Ile | |
XM_011524296.1:c.860G>T | XP_011522598.1:p.Ser287Ile | |
XM_011524296.2:c.860G>T | XP_011522598.1:p.Ser287Ile | |
NM_173477.5:c.1169G>T MANE Select | NP_775748.2:p.Ser390Ile | |
NM_001282489.3:c.860G>T | NP_001269418.1:p.Ser287Ile |