HGVS | Genome Assembly |
---|---|
NC_000024.10:g.15359940A>G , CM000686.2:g.15359940A>G | GRCh38 |
NC_000024.9:g.17471820A>G , CM000686.1:g.17471820A>G | GRCh37 |
NC_000024.8:g.15981214A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000421058.1:n.291-11074T>C | ||
XR_001756089.1:n.86+5110T>C |