HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589533T>G , CM000686.2:g.19589533T>G | GRCh38 |
NC_000024.9:g.21751419T>G , CM000686.1:g.21751419T>G | GRCh37 |
NC_000024.8:g.20210807T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.510T>G | ||
ENST00000686905.1:n.1595T>G | ||
ENST00000693214.1:n.1683T>G | ||
ENST00000445715.6:n.412T>G | ||
ENST00000407724.7:n.756T>G | ||
ENST00000445715.5:n.412T>G | ||
ENST00000447202.2:n.2447T>G | ||
ENST00000447520.5:n.412T>G | ||
ENST00000459719.6:n.1683T>G | ||
ENST00000538014.2:n.1702T>G | ||
ENST00000585549.5:n.55T>G | ||
ENST00000587095.1:n.53T>G | ||
ENST00000588613.5:n.121T>G | ||
ENST00000589075.5:n.94T>G | ||
NR_045128.1:n.436T>G | ||
NR_045129.1:n.436T>G |