HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132682440A>G , CM000667.2:g.132682440A>G | GRCh38 |
NC_000005.9:g.132018132A>G , CM000667.1:g.132018132A>G | GRCh37 |
NC_000005.8:g.132046031A>G | NCBI36 |
NG_023252.1:g.13760A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231449.7:c.361-46A>G MANE Select | ENSP00000231449.2:n.361-46A>G | |
ENST00000231449.6:c.361-46A>G | ENSP00000231449.2:n.361-46A>G | |
ENST00000350025.2:c.313-46A>G | ENSP00000325190.3:n.313-46A>G | |
ENST00000622422.1:c.*51-46A>G | ENSP00000480581.1:n.*51-46A>G | |
NM_000589.3:c.361-46A>G | NP_000580.1:n.361-46A>G | |
NM_172348.2:c.313-46A>G | NP_758858.1:n.313-46A>G | |
XR_948791.1:n.176+14T>C | ||
NM_001354990.1:c.*51-46A>G | NP_001341919.1:n.*51-46A>G | |
NR_134248.1:n.176+14T>C | ||
NM_000589.4:c.361-46A>G MANE Select | NP_000580.1:n.361-46A>G | |
NM_172348.3:c.313-46A>G | NP_758858.1:n.313-46A>G | |
NM_001354990.2:c.*51-46A>G | NP_001341919.1:n.*51-46A>G |