HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102912809T>G , CM000674.2:g.102912809T>G | GRCh38 |
NC_000012.11:g.103306587T>G , CM000674.1:g.103306587T>G | GRCh37 |
NC_000012.10:g.101830717T>G | NCBI36 |
NG_008690.1:g.9794A>C | |
NG_008690.2:g.50602A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553106.6:c.150A>C MANE Select | ENSP00000448059.1:p.Lys50Asn | |
ENST00000307000.7:c.135A>C | ENSP00000303500.2:p.Lys45Asn | |
ENST00000546844.1:c.150A>C | ENSP00000446658.1:p.Lys50Asn | |
ENST00000548677.2:n.237A>C | ||
ENST00000548928.1:n.72A>C | ||
ENST00000549111.5:n.246A>C | ||
ENST00000550978.6:c.134A>C | ||
ENST00000551337.5:c.150A>C | ENSP00000447620.1:p.Lys50Asn | |
ENST00000551988.5:n.239A>C | ||
ENST00000553106.5:c.150A>C | ENSP00000448059.1:p.Lys50Asn | |
ENST00000635500.1:n.118A>C | ||
NM_000277.1:c.150A>C | NP_000268.1:p.Lys50Asn | |
XM_011538422.1:c.150A>C | XP_011536724.1:p.Lys50Asn | |
NM_000277.2:c.150A>C | NP_000268.1:p.Lys50Asn | |
NM_001354304.1:c.150A>C | NP_001341233.1:p.Lys50Asn | |
XM_017019370.2:c.150A>C | XP_016874859.1:p.Lys50Asn | |
NM_000277.3:c.150A>C MANE Select | NP_000268.1:p.Lys50Asn | |
NM_001354304.2:c.150A>C | NP_001341233.1:p.Lys50Asn |