HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10656415T>G , CM000682.2:g.10656415T>G | GRCh38 |
NC_000020.10:g.10637063T>G , CM000682.1:g.10637063T>G | GRCh37 |
NC_000020.9:g.10585063T>G | NCBI36 |
NG_007496.1:g.22632A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.738A>C MANE Select | ENSP00000254958.4:p.Lys246Asn | |
ENST00000254958.9:c.738A>C | ENSP00000254958.4:p.Lys246Asn | |
ENST00000423891.6:n.604A>C | ||
NM_000214.2:c.738A>C | NP_000205.1:p.Lys246Asn | |
NM_000214.3:c.738A>C MANE Select | NP_000205.1:p.Lys246Asn |