HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572934C>A , CM000685.2:g.47572934C>A | GRCh38 |
NC_000023.10:g.47432333C>A , CM000685.1:g.47432333C>A | GRCh37 |
NC_000023.9:g.47317277C>A | NCBI36 |
NG_008437.1:g.51924G>T | |
NG_016339.1:g.16818C>A | |
NG_016339.2:g.16818C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.2048G>T MANE Select | ENSP00000295987.7:p.Ser683Ile | |
ENST00000340666.5:c.2010G>T | ENSP00000343206.4:p.Ter670Tyr | |
ENST00000640721.1:c.98G>T | ENSP00000492857.1:p.Ser33Ile | |
ENST00000295987.11:c.2048G>T | ENSP00000295987.7:p.Ser683Ile | |
ENST00000340666.4:c.2010G>T | ENSP00000343206.4:p.Ter670Tyr | |
NM_006950.3:c.2048G>T MANE Select | NP_008881.2:p.Ser683Ile | |
NM_133499.2:c.2010G>T | NP_598006.1:p.Ter670Tyr |