HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30308360G>T , CM000685.2:g.30308360G>T | GRCh38 |
NC_000023.10:g.30326477G>T , CM000685.1:g.30326477G>T | GRCh37 |
NC_000023.9:g.30236398G>T | NCBI36 |
NG_009814.1:g.6019C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.1004C>A MANE Select | ENSP00000368253.4:p.Pro335His | |
ENST00000378963.1:c.119C>A | ENSP00000368246.1:p.Pro40His | |
ENST00000378970.4:c.1004C>A | ENSP00000368253.4:p.Pro335His | |
NM_000475.4:c.1004C>A | NP_000466.2:p.Pro335His | |
NM_000475.5:c.1004C>A MANE Select | NP_000466.2:p.Pro335His |