HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70441546A>G , CM000672.2:g.70441546A>G | GRCh38 |
NC_000010.10:g.72201302A>G , CM000672.1:g.72201302A>G | GRCh37 |
NC_000010.9:g.71871308A>G | NCBI36 |
NG_012448.1:g.5164T>C | |
NG_012448.2:g.11403T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287139.8:c.122T>C MANE Select | ENSP00000287139.3:p.Leu41Pro | |
ENST00000287139.7:c.122T>C | ENSP00000287139.3:p.Leu41Pro | |
ENST00000414871.1:c.29-5563T>C | ENSP00000394468.1:n.29-5563T>C | |
NM_018055.4:c.122T>C | NP_060525.3:p.Leu41Pro | |
NM_001329906.1:c.-206-5563T>C | NP_001316835.1:n.-206-5563T>C | |
XM_024448028.1:c.-207+485T>C | XP_024303796.1:n.-207+485T>C | |
NM_018055.5:c.122T>C MANE Select | NP_060525.3:p.Leu41Pro | |
NM_001329906.2:c.-206-5563T>C | NP_001316835.1:n.-206-5563T>C |