HGVS | Genome Assembly |
---|---|
NC_000005.10:g.147830672T>C , CM000667.2:g.147830672T>C | GRCh38 |
NC_000005.9:g.147210235T>C , CM000667.1:g.147210235T>C | GRCh37 |
NC_000005.8:g.147190428T>C | NCBI36 |
NG_008356.2:g.13560A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296695.10:c.55+851A>G MANE Select | ENSP00000296695.5:n.55+851A>G | |
ENST00000296695.9:c.55+851A>G | ENSP00000296695.5:n.55+851A>G | |
ENST00000510027.2:c.55+851A>G | ENSP00000427376.1:n.55+851A>G | |
NM_003122.4:c.55+851A>G | NP_003113.2:n.55+851A>G | |
NM_001354966.1:c.55+851A>G | NP_001341895.1:n.55+851A>G | |
NM_001354966.2:c.55+851A>G | NP_001341895.1:n.55+851A>G | |
NM_001379610.1:c.55+851A>G MANE Select | NP_001366539.1:n.55+851A>G | |
NM_003122.5:c.55+851A>G | NP_003113.2:n.55+851A>G |