HGVS | Genome Assembly |
---|---|
NC_000005.10:g.154130036T>C , CM000667.2:g.154130036T>C | GRCh38 |
NC_000005.9:g.153509596T>C , CM000667.1:g.153509596T>C | GRCh37 |
NC_000005.8:g.153489789T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000518497.6:n.429+8139T>C | ||
ENST00000520327.6:n.293-19830T>C | ||
ENST00000518497.5:n.429+8139T>C | ||
ENST00000519325.1:n.250-4809T>C | ||
ENST00000519612.5:n.430-4809T>C | ||
ENST00000520327.5:n.293-19830T>C | ||
ENST00000521527.5:n.287-4809T>C |