HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35500007T>A , CM000668.2:g.35500007T>A | GRCh38 |
NC_000006.11:g.35467784T>A , CM000668.1:g.35467784T>A | GRCh37 |
NC_000006.10:g.35575762T>A | NCBI36 |
NG_009077.1:g.17864A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000229771.11:c.1469A>T MANE Select | ENSP00000229771.6:p.Asn490Ile | |
ENST00000229771.10:c.1469A>T | ENSP00000229771.6:p.Asn490Ile | |
ENST00000322263.8:c.1310A>T | ENSP00000319414.4:p.Asn437Ile | |
ENST00000614066.4:c.1463A>T | ENSP00000477534.1:p.Asn488Ile | |
NM_001289395.1:c.1310A>T | NP_001276324.1:p.Asn437Ile | |
NM_003322.4:c.1469A>T | NP_003313.3:p.Asn490Ile | |
NM_003322.5:c.1469A>T | NP_003313.3:p.Asn490Ile | |
NM_003322.6:c.1469A>T MANE Select | NP_003313.3:p.Asn490Ile | |
NM_001289395.2:c.1310A>T | NP_001276324.1:p.Asn437Ile |