HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24178399A>G , CM000668.2:g.24178399A>G | GRCh38 |
NC_000006.11:g.24178627A>G , CM000668.1:g.24178627A>G | GRCh37 |
NC_000006.10:g.24286606A>G | NCBI36 |
NG_012829.1:g.184654T>C | |
NG_012829.2:g.209894T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.1257T>C MANE Select | ENSP00000367715.3:p.Val419= | |
ENST00000378450.6:c.516T>C | ENSP00000367711.3:p.Val172= | |
ENST00000378454.7:c.1257T>C | ENSP00000367715.3:p.Val419= | |
NM_001195610.1:c.1257T>C | NP_001182539.1:p.Val419= | |
NM_016356.4:c.1257T>C | NP_057440.2:p.Val419= | |
NM_016356.5:c.1257T>C MANE Select | NP_057440.2:p.Val419= | |
NM_001195610.2:c.1257T>C | NP_001182539.1:p.Val419= |