HGVS | Genome Assembly |
---|---|
NC_000006.12:g.36677426T>C , CM000668.2:g.36677426T>C | GRCh38 |
NC_000006.11:g.36645203T>C , CM000668.1:g.36645203T>C | GRCh37 |
NC_000006.10:g.36753181T>C | NCBI36 |
NG_009364.1:g.3745T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000448526.6:c.-37-476T>C | ENSP00000409259.3:n.-37-476T>C | |
ENST00000459970.1:n.44-362T>C | ||
ENST00000615513.4:c.-6+902T>C | ENSP00000482768.1:n.-6+902T>C | |
NM_001220777.1:c.-6+902T>C | NP_001207706.1:n.-6+902T>C | |
NM_001291549.1:c.-141-270T>C | NP_001278478.1:n.-141-270T>C | |
NM_078467.2:c.-37-476T>C | NP_510867.1:n.-37-476T>C | |
NM_001220777.2:c.-6+902T>C | NP_001207706.1:n.-6+902T>C | |
NM_001291549.3:c.-141-270T>C | NP_001278478.1:n.-141-270T>C | |
NM_001374509.1:c.-49-362T>C | NP_001361438.1:n.-49-362T>C | |
NM_001374510.1:c.34+856T>C | NP_001361439.1:n.34+856T>C | |
NM_078467.3:c.-37-476T>C | NP_510867.1:n.-37-476T>C |