HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110812675T>A , CM000672.2:g.110812675T>A | GRCh38 |
NC_000010.10:g.112572433T>A , CM000672.1:g.112572433T>A | GRCh37 |
NC_000010.9:g.112562423T>A | NCBI36 |
NG_021177.1:g.173279T>A , LRG_382:g.173279T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369519.4:c.2278T>A MANE Select | ENSP00000358532.3:p.Tyr760Asn | |
ENST00000369519.3:c.2278T>A | ENSP00000358532.3:p.Tyr760Asn | |
NM_001134363.2:c.2278T>A | NP_001127835.2:p.Tyr760Asn | |
XM_011539697.1:c.1894T>A | XP_011537999.1:p.Tyr632Asn | |
XM_017016103.2:c.2113T>A | XP_016871592.1:p.Tyr705Asn | |
XM_017016104.2:c.1894T>A | XP_016871593.1:p.Tyr632Asn | |
NM_001134363.3:c.2278T>A MANE Select | NP_001127835.2:p.Tyr760Asn |