HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169485640A>C , CM000663.2:g.169485640A>C | GRCh38 |
NC_000001.10:g.169454878A>C , CM000663.1:g.169454878A>C | GRCh37 |
NC_000001.9:g.167721502A>C | NCBI36 |
NG_008255.1:g.5331T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000236137.10:c.127T>G MANE Select | ENSP00000236137.5:p.Phe43Val | |
ENST00000646596.1:c.127T>G | ENSP00000494404.1:p.Phe43Val | |
ENST00000236137.9:c.127T>G | ENSP00000236137.5:p.Phe43Val | |
ENST00000367804.4:c.127T>G | ENSP00000356778.3:p.Phe43Val | |
NM_006996.2:c.127T>G | NP_008927.1:p.Phe43Val | |
XM_011509076.1:c.12+413T>G | XP_011507378.1:n.12+413T>G | |
XM_011509077.1:c.127T>G | XP_011507379.1:p.Phe43Val | |
NM_001319667.1:c.127T>G | NP_001306596.1:p.Phe43Val | |
NM_006996.3:c.127T>G MANE Select | NP_008927.1:p.Phe43Val |