HGVS | Genome Assembly |
---|---|
NC_000023.11:g.134498402A>T , CM000685.2:g.134498402A>T | GRCh38 |
NC_000023.10:g.133632432A>T , CM000685.1:g.133632432A>T | GRCh37 |
NC_000023.9:g.133460098A>T | NCBI36 |
NG_012329.1:g.43258A>T | |
NG_012329.2:g.43258A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298556.8:c.498A>T MANE Select | ENSP00000298556.7:p.Lys166Asn | |
ENST00000298556.7:c.498A>T | ENSP00000298556.7:p.Lys166Asn | |
ENST00000462974.5:n.656A>T | ||
ENST00000475720.1:n.456A>T | ||
NM_000194.2:c.498A>T | NP_000185.1:p.Lys166Asn | |
XM_011531328.1:c.516A>T | XP_011529630.1:p.Lys172Asn | |
NM_000194.3:c.498A>T MANE Select | NP_000185.1:p.Lys166Asn |