HGVS | Genome Assembly |
---|---|
NC_000006.12:g.159677151T>C , CM000668.2:g.159677151T>C | GRCh38 |
NC_000006.11:g.160098183T>C , CM000668.1:g.160098183T>C | GRCh37 |
NC_000006.10:g.160018173T>C | NCBI36 |
NG_008729.1:g.21171A>G | |
NG_008729.3:g.90379A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000538183.7:c.*5342A>G MANE Select | ENSP00000446252.1:n.*5342A>G | |
ENST00000538183.6:c.*5342A>G | ENSP00000446252.1:n.*5342A>G | |
NM_000636.4:c.*5342A>G MANE Select | NP_000627.2:n.*5342A>G | |
NM_001322814.2:c.*5342A>G | NP_001309743.1:n.*5342A>G | |
NM_001322815.2:c.*5342A>G | NP_001309744.1:n.*5342A>G | |
NM_001322819.2:c.*5342A>G | NP_001309748.1:n.*5342A>G | |
NM_001322820.2:c.*5342A>G | NP_001309749.1:n.*5342A>G |