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