HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32220842T>G , CM000668.2:g.32220842T>G | GRCh38 |
NC_000006.11:g.32188619T>G , CM000668.1:g.32188619T>G | GRCh37 |
NC_000006.10:g.32296597T>G | NCBI36 |
NG_028190.1:g.8226A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.836A>C MANE Select | ENSP00000364163.3:p.Asn279Thr | |
ENST00000473562.1:n.965A>C | ||
NM_004557.3:c.836A>C | NP_004548.3:p.Asn279Thr | |
NR_134949.1:n.975A>C | ||
NR_134950.1:n.975A>C | ||
NM_004557.4:c.836A>C MANE Select | NP_004548.3:p.Asn279Thr | |
NR_134949.2:n.975A>C | ||
NR_134950.2:n.975A>C |