HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30304743T>C , CM000685.2:g.30304743T>C | GRCh38 |
NC_000023.10:g.30322860T>C , CM000685.1:g.30322860T>C | GRCh37 |
NC_000023.9:g.30232781T>C | NCBI36 |
NG_009814.1:g.9636A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.1249A>G MANE Select | ENSP00000368253.4:p.Met417Val | |
ENST00000378970.4:c.1249A>G | ENSP00000368253.4:p.Met417Val | |
NM_000475.4:c.1249A>G | NP_000466.2:p.Met417Val | |
NM_000475.5:c.1249A>G MANE Select | NP_000466.2:p.Met417Val |