HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218695G>T , CM000676.2:g.93218695G>T | GRCh38 |
NC_000014.8:g.93685041G>T , CM000676.1:g.93685041G>T | GRCh37 |
NC_000014.7:g.92754794G>T | NCBI36 |
NG_051089.1:g.16640G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000013070.11:c.770G>T MANE Select | ENSP00000013070.6:p.Ser257Ile | |
ENST00000013070.10:c.770G>T | ENSP00000013070.6:p.Ser257Ile | |
ENST00000416753.5:c.542G>T | ENSP00000391706.2:p.Ser181Ile | |
ENST00000553674.1:c.*471G>T | ENSP00000450470.1:n.*471G>T | |
ENST00000553857.5:c.378+3414G>T | ||
ENST00000555329.1:c.15G>T | ||
NM_175748.3:c.770G>T | NP_786924.2:p.Ser257Ile | |
NR_038150.1:n.872G>T | ||
NM_175748.4:c.770G>T MANE Select | NP_786924.2:p.Ser257Ile | |
NR_038150.2:n.672G>T |