HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102855197C>G , CM000674.2:g.102855197C>G | GRCh38 |
NC_000012.11:g.103248975C>G , CM000674.1:g.103248975C>G | GRCh37 |
NC_000012.10:g.101773105C>G | NCBI36 |
NG_008690.1:g.67406G>C | |
NG_008690.2:g.108214G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553106.6:c.645G>C MANE Select | ENSP00000448059.1:p.Lys215Asn | |
ENST00000307000.7:c.630G>C | ENSP00000303500.2:p.Lys210Asn | |
ENST00000549111.5:n.741G>C | ||
ENST00000553106.5:c.645G>C | ENSP00000448059.1:p.Lys215Asn | |
NM_000277.1:c.645G>C | NP_000268.1:p.Lys215Asn | |
XM_011538422.1:c.645G>C | XP_011536724.1:p.Lys215Asn | |
NM_000277.2:c.645G>C | NP_000268.1:p.Lys215Asn | |
NM_001354304.1:c.645G>C | NP_001341233.1:p.Lys215Asn | |
XM_017019370.2:c.645G>C | XP_016874859.1:p.Lys215Asn | |
NM_000277.3:c.645G>C MANE Select | NP_000268.1:p.Lys215Asn | |
NM_001354304.2:c.645G>C | NP_001341233.1:p.Lys215Asn |