HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6019621G>T , CM000674.2:g.6019621G>T | GRCh38 |
NC_000012.11:g.6128787G>T , CM000674.1:g.6128787G>T | GRCh37 |
NC_000012.10:g.5999048G>T | NCBI36 |
NG_009072.1:g.110050C>A | |
NG_009072.2:g.110050C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.3797C>A MANE Select | ENSP00000261405.5:p.Pro1266Gln | |
ENST00000261405.9:c.3797C>A | ENSP00000261405.5:p.Pro1266Gln | |
ENST00000538635.5:n.421-25687C>A | ||
ENST00000539641.1:n.595C>A | ||
NM_000552.3:c.3797C>A | NP_000543.2:p.Pro1266Gln | |
NM_000552.4:c.3797C>A | NP_000543.2:p.Pro1266Gln | |
NM_000552.5:c.3797C>A MANE Select | NP_000543.3:p.Pro1266Gln |