HGVS | Genome Assembly |
---|---|
NC_000006.12:g.16290540A>G , CM000668.2:g.16290540A>G | GRCh38 |
NC_000006.11:g.16290771A>G , CM000668.1:g.16290771A>G | GRCh37 |
NC_000006.10:g.16398750A>G | NCBI36 |
NG_013303.1:g.56961A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259727.5:c.776A>G MANE Select | ENSP00000259727.4:p.Asn259Ser | |
ENST00000259727.4:c.776A>G | ENSP00000259727.4:p.Asn259Ser | |
ENST00000540478.1:n.596A>G | ||
ENST00000543191.5:n.271A>G | ||
ENST00000544145.1:n.130A>G | ||
NM_006877.3:c.776A>G | NP_006868.3:p.Asn259Ser | |
XM_011514508.1:c.919A>G | XP_011512810.1:p.Thr307Ala | |
XM_011514508.2:c.919A>G | XP_011512810.1:p.Thr307Ala | |
NM_006877.4:c.776A>G MANE Select | NP_006868.3:p.Asn259Ser |