HGVS | Genome Assembly |
---|---|
NC_000017.11:g.14208690T>C , CM000679.2:g.14208690T>C | GRCh38 |
NC_000017.10:g.14112007T>C , CM000679.1:g.14112007T>C | GRCh37 |
NC_000017.9:g.14052732T>C | NCBI36 |
NG_008034.1:g.144289T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000664217.1:c.*192T>C | ENSP00000499396.1:n.*192T>C | |
ENST00000670279.1:c.929-819T>C | ENSP00000499450.1:n.929-819T>C | |
XR_933974.1:n.1032-819T>C |