HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35500009C>A , CM000668.2:g.35500009C>A | GRCh38 |
NC_000006.11:g.35467786C>A , CM000668.1:g.35467786C>A | GRCh37 |
NC_000006.10:g.35575764C>A | NCBI36 |
NG_009077.1:g.17862G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000229771.11:c.1467G>T MANE Select | ENSP00000229771.6:p.Lys489Asn | |
ENST00000229771.10:c.1467G>T | ENSP00000229771.6:p.Lys489Asn | |
ENST00000322263.8:c.1308G>T | ENSP00000319414.4:p.Lys436Asn | |
ENST00000614066.4:c.1461G>T | ENSP00000477534.1:p.Lys487Asn | |
NM_001289395.1:c.1308G>T | NP_001276324.1:p.Lys436Asn | |
NM_003322.4:c.1467G>T | NP_003313.3:p.Lys489Asn | |
NM_003322.5:c.1467G>T | NP_003313.3:p.Lys489Asn | |
NM_003322.6:c.1467G>T MANE Select | NP_003313.3:p.Lys489Asn | |
NM_001289395.2:c.1308G>T | NP_001276324.1:p.Lys436Asn |