HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50150145A>G , CM000676.2:g.50150145A>G | GRCh38 |
NC_000014.8:g.50616863A>G , CM000676.1:g.50616863A>G | GRCh37 |
NC_000014.7:g.49686613A>G | NCBI36 |
NG_051073.1:g.86549T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216373.10:c.2247T>C MANE Select | ENSP00000216373.5:p.Asn749= | |
ENST00000216373.9:c.2247T>C | ENSP00000216373.5:p.Asn749= | |
ENST00000543680.5:c.2148T>C | ENSP00000445328.1:p.Asn716= | |
NM_006939.2:c.2247T>C | NP_008870.2:p.Asn749= | |
XM_005268021.1:c.2067T>C | XP_005268078.1:p.Asn689= | |
XM_011537103.1:c.2208T>C | XP_011535405.1:p.Asn736= | |
XM_011537104.1:c.2247T>C | XP_011535406.1:p.Asn749= | |
NM_006939.3:c.2247T>C | NP_008870.2:p.Asn749= | |
NM_006939.4:c.2247T>C MANE Select | NP_008870.2:p.Asn749= |