HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42126368C>G , CM000684.2:g.42126368C>G | GRCh38 |
NC_000022.10:g.42522370C>G , CM000684.1:g.42522370C>G | GRCh37 |
NC_000022.9:g.40852314C>G | NCBI36 |
NG_008376.3:g.8624G>C | |
NG_008376.4:g.9443G>C |
HGVS | Amino-acid Change | |
---|---|---|
XM_011529966.1:c.1452+248G>C | XP_011528268.1:n.1452+248G>C | |
XM_011529967.1:c.1452+248G>C | XP_011528269.1:n.1452+248G>C | |
XM_011529968.1:c.1452+248G>C | XP_011528270.1:n.1452+248G>C | |
XM_011529969.1:c.1308+248G>C | XP_011528271.1:n.1308+248G>C | |
XM_011529970.1:c.1299+248G>C | XP_011528272.1:n.1299+248G>C |