HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38408886A>C , CM000685.2:g.38408886A>C | GRCh38 |
NC_000023.10:g.38268139A>C , CM000685.1:g.38268139A>C | GRCh37 |
NC_000023.9:g.38153083A>C | NCBI36 |
NG_008471.1:g.61404A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.728A>C MANE Select | ENSP00000039007.4:p.Lys243Thr | |
ENST00000643344.1:c.*478A>C | ENSP00000496606.1:n.*478A>C | |
ENST00000039007.4:c.728A>C | ENSP00000039007.4:p.Lys243Thr | |
ENST00000465127.1:c.172-257235A>C | ENSP00000417050.1:n.172-257235A>C | |
NM_000531.5:c.728A>C | NP_000522.3:p.Lys243Thr | |
XM_017029556.1:c.728A>C | XP_016885045.1:p.Lys243Thr | |
NM_000531.6:c.728A>C MANE Select | NP_000522.3:p.Lys243Thr |