HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24178127A>G , CM000668.2:g.24178127A>G | GRCh38 |
NC_000006.11:g.24178355A>G , CM000668.1:g.24178355A>G | GRCh37 |
NC_000006.10:g.24286334A>G | NCBI36 |
NG_012829.1:g.184926T>C | |
NG_012829.2:g.210166T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.1326+203T>C MANE Select | ENSP00000367715.3:n.1326+203T>C | |
ENST00000378450.6:c.585+203T>C | ENSP00000367711.3:n.585+203T>C | |
ENST00000378454.7:c.1326+203T>C | ENSP00000367715.3:n.1326+203T>C | |
NM_001195610.1:c.1326+203T>C | NP_001182539.1:n.1326+203T>C | |
NM_016356.4:c.1326+203T>C | NP_057440.2:n.1326+203T>C | |
NM_016356.5:c.1326+203T>C MANE Select | NP_057440.2:n.1326+203T>C | |
NM_001195610.2:c.1326+203T>C | NP_001182539.1:n.1326+203T>C |