HGVS | Genome Assembly |
---|---|
NC_000022.11:g.26607947T>A , CM000684.2:g.26607947T>A | GRCh38 |
NC_000022.10:g.27003911T>A , CM000684.1:g.27003911T>A | GRCh37 |
NC_000022.9:g.25333911T>A | NCBI36 |
NG_009826.1:g.15081A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647569.1:n.186A>T | ||
ENST00000647684.1:c.374A>T MANE Select | ENSP00000497249.1:p.Asn125Ile | |
ENST00000215939.2:c.374A>T | ENSP00000215939.2:p.Asn125Ile | |
NM_001887.3:c.374A>T | NP_001878.1:p.Asn125Ile | |
XM_011529899.1:c.374A>T | XP_011528201.1:p.Asn125Ile | |
NM_001887.4:c.374A>T MANE Select | NP_001878.1:p.Asn125Ile | |
XM_011529899.3:c.374A>T | XP_011528201.1:p.Asn125Ile |