HGVS | Genome Assembly |
---|---|
NC_000008.11:g.18400716T>A , CM000670.2:g.18400716T>A | GRCh38 |
NC_000008.10:g.18258226T>A , CM000670.1:g.18258226T>A | GRCh37 |
NC_000008.9:g.18302506T>A | NCBI36 |
NG_012246.1:g.14472T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286479.4:c.713T>A MANE Select | ENSP00000286479.3:p.Ile238Asn | |
ENST00000286479.3:c.713T>A | ENSP00000286479.3:p.Ile238Asn | |
ENST00000520116.1:c.323T>A | ENSP00000428416.1:p.Ile108Asn | |
NM_000015.2:c.713T>A | NP_000006.2:p.Ile238Asn | |
XM_011544358.1:c.713T>A | XP_011542660.1:p.Ile238Asn | |
XM_017012938.1:c.713T>A | XP_016868427.1:p.Ile238Asn | |
NM_000015.3:c.713T>A MANE Select | NP_000006.2:p.Ile238Asn |