HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32220769T>G , CM000668.2:g.32220769T>G | GRCh38 |
NC_000006.11:g.32188546T>G , CM000668.1:g.32188546T>G | GRCh37 |
NC_000006.10:g.32296524T>G | NCBI36 |
NG_028190.1:g.8299A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.909A>C MANE Select | ENSP00000364163.3:p.Pro303= | |
ENST00000473562.1:n.1038A>C | ||
NM_004557.3:c.909A>C | NP_004548.3:p.Pro303= | |
NR_134949.1:n.1048A>C | ||
NR_134950.1:n.1048A>C | ||
NM_004557.4:c.909A>C MANE Select | NP_004548.3:p.Pro303= | |
NR_134949.2:n.1048A>C | ||
NR_134950.2:n.1048A>C |