HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30308342T>G , CM000685.2:g.30308342T>G | GRCh38 |
NC_000023.10:g.30326459T>G , CM000685.1:g.30326459T>G | GRCh37 |
NC_000023.9:g.30236380T>G | NCBI36 |
NG_009814.1:g.6037A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.1022A>C MANE Select | ENSP00000368253.4:p.His341Pro | |
ENST00000378963.1:c.137A>C | ENSP00000368246.1:p.His46Pro | |
ENST00000378970.4:c.1022A>C | ENSP00000368253.4:p.His341Pro | |
NM_000475.4:c.1022A>C | NP_000466.2:p.His341Pro | |
NM_000475.5:c.1022A>C MANE Select | NP_000466.2:p.His341Pro |