HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7533918T>G , CM000681.2:g.7533918T>G | GRCh38 |
NC_000019.9:g.7598804T>G , CM000681.1:g.7598804T>G | GRCh37 |
NC_000019.8:g.7504804T>G | NCBI36 |
NG_013374.1:g.4767T>G | |
NG_015806.1:g.16309T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.*123T>G MANE Select | ENSP00000264079.5:n.*123T>G | |
ENST00000264079.10:c.*123T>G | ENSP00000264079.5:n.*123T>G | |
ENST00000394321.9:n.2181T>G | ||
ENST00000599334.1:c.594T>G | ||
ENST00000601870.1:c.169+50T>G | ||
ENST00000602227.1:n.420T>G | ||
NM_020533.2:c.*123T>G | NP_065394.1:n.*123T>G | |
NM_020533.3:c.*123T>G MANE Select | NP_065394.1:n.*123T>G |