HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112832732T>G , CM000664.2:g.112832732T>G | GRCh38 |
NC_000002.11:g.113590309T>G , CM000664.1:g.113590309T>G | GRCh37 |
NC_000002.10:g.113306780T>G | NCBI36 |
NG_008851.1:g.9048A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263341.7:c.396A>C MANE Select | ENSP00000263341.2:p.Lys132Asn | |
ENST00000263341.6:c.396A>C | ENSP00000263341.2:p.Lys132Asn | |
ENST00000418817.5:c.396A>C | ENSP00000407219.1:p.Lys132Asn | |
ENST00000487639.1:n.297A>C | ||
ENST00000491056.5:n.1203A>C | ||
NM_000576.2:c.396A>C | NP_000567.1:p.Lys132Asn | |
XM_006712496.1:c.162A>C | XP_006712559.1:p.Lys54Asn | |
XM_017003988.2:c.303A>C | XP_016859477.1:p.Lys101Asn | |
NM_000576.3:c.396A>C MANE Select | NP_000567.1:p.Lys132Asn |