HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31774813A>G , CM000668.2:g.31774813A>G | GRCh38 |
NC_000006.11:g.31742590A>G , CM000668.1:g.31742590A>G | GRCh37 |
NC_000006.10:g.31850569A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375688.5:c.611-187T>C MANE Select | ENSP00000364840.4:n.611-187T>C | |
ENST00000375688.4:c.611-187T>C | ENSP00000364840.4:n.611-187T>C | |
ENST00000467576.1:n.590-187T>C | ||
NM_025258.2:c.611-187T>C | NP_079534.2:n.611-187T>C | |
XM_005249427.1:c.611-187T>C | XP_005249484.1:n.611-187T>C | |
XR_926313.1:n.849-187T>C | ||
XM_005249427.2:c.611-187T>C | XP_005249484.1:n.611-187T>C | |
XM_017011327.2:c.611-187T>C | XP_016866816.1:n.611-187T>C | |
XM_017011328.1:c.611-187T>C | XP_016866817.1:n.611-187T>C | |
XM_017011329.1:c.-231-187T>C | XP_016866818.1:n.-231-187T>C | |
XR_001743651.2:n.911-187T>C | ||
NM_025258.3:c.611-187T>C MANE Select | NP_079534.2:n.611-187T>C |