HGVS | Genome Assembly |
---|---|
NC_000023.11:g.78118057G>T , CM000685.2:g.78118057G>T | GRCh38 |
NC_000023.10:g.77373554G>T , CM000685.1:g.77373554G>T | GRCh37 |
NC_000023.9:g.77260210G>T | NCBI36 |
NG_008862.1:g.18889G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373316.5:c.528G>T MANE Select | ENSP00000362413.4:p.Met176Ile | |
ENST00000644362.1:c.444G>T | ENSP00000496140.1:p.Met148Ile | |
ENST00000373316.4:c.528G>T | ENSP00000362413.4:p.Met176Ile | |
ENST00000491291.1:n.520G>T | ||
NM_000291.3:c.528G>T | NP_000282.1:p.Met176Ile | |
NM_000291.4:c.528G>T MANE Select | NP_000282.1:p.Met176Ile |