HGVS | Genome Assembly |
---|---|
NC_000019.10:g.694946A>T , CM000681.2:g.694946A>T | GRCh38 |
NC_000019.9:g.694946A>T , CM000681.1:g.694946A>T | GRCh37 |
NC_000019.8:g.645946A>T | NCBI36 |
NG_051189.1:g.5586T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329267.9:c.101T>A MANE Select | ENSP00000327386.6:p.Ile34Asn | |
ENST00000329267.8:c.101T>A | ENSP00000327386.6:p.Ile34Asn | |
ENST00000613411.4:c.104T>A | ENSP00000482358.1:p.Ile35Asn | |
NM_001308209.1:c.101T>A | NP_001295138.1:p.Ile34Asn | |
NM_214710.3:c.104T>A | NP_999875.1:p.Ile35Asn | |
NM_214710.4:c.104T>A | NP_999875.1:p.Ile35Asn | |
NM_001308209.2:c.101T>A MANE Select | NP_001295138.2:p.Ile34Asn | |
NM_214710.5:c.104T>A | NP_999875.2:p.Ile35Asn |