HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20242442G>T , CM000684.2:g.20242442G>T | GRCh38 |
NC_000022.10:g.20229965G>T , CM000684.1:g.20229965G>T | GRCh37 |
NC_000022.9:g.18609965G>T | NCBI36 |
NG_012176.1:g.30852C>A | |
NG_012176.2:g.30852C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000043402.8:c.691C>A MANE Select | ENSP00000043402.7:p.Leu231Ile | |
ENST00000043402.7:c.691C>A | ENSP00000043402.7:p.Leu231Ile | |
ENST00000416372.5:c.750C>A | ||
ENST00000425986.1:c.948C>A | ||
NM_023004.5:c.691C>A | NP_075380.1:p.Leu231Ile | |
NM_023004.6:c.691C>A MANE Select | NP_075380.1:p.Leu231Ile |