HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589606T>C , CM000686.2:g.19589606T>C | GRCh38 |
NC_000024.9:g.21751492T>C , CM000686.1:g.21751492T>C | GRCh37 |
NC_000024.8:g.20210880T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.583T>C | ||
ENST00000686905.1:n.1668T>C | ||
ENST00000693214.1:n.1756T>C | ||
ENST00000445715.6:n.485T>C | ||
ENST00000407724.7:n.829T>C | ||
ENST00000445715.5:n.485T>C | ||
ENST00000447202.2:n.2520T>C | ||
ENST00000447520.5:n.485T>C | ||
ENST00000459719.6:n.1756T>C | ||
ENST00000538014.2:n.1775T>C | ||
ENST00000585549.5:n.128T>C | ||
ENST00000587095.1:n.126T>C | ||
ENST00000588613.5:n.194T>C | ||
ENST00000589075.5:n.167T>C | ||
NR_045128.1:n.509T>C | ||
NR_045129.1:n.509T>C |