HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189565243T>C , CM000664.2:g.189565243T>C | GRCh38 |
NC_000002.11:g.190429969T>C , CM000664.1:g.190429969T>C | GRCh37 |
NC_000002.10:g.190138214T>C | NCBI36 |
NG_009027.1:g.20569A>G , LRG_837:g.20569A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261024.7:c.760+111A>G MANE Select | ENSP00000261024.3:n.760+111A>G | |
ENST00000261024.6:c.760+111A>G | ENSP00000261024.2:n.760+111A>G | |
NM_014585.5:c.760+111A>G , LRG_837t1:c.760+111A>G | NP_055400.1:n.760+111A>G | |
XM_005246505.1:c.640+111A>G | XP_005246562.1:n.640+111A>G | |
XM_005246505.2:c.640+111A>G | XP_005246562.1:n.640+111A>G | |
XM_017003938.2:c.640+111A>G | XP_016859427.1:n.640+111A>G | |
NM_014585.6:c.760+111A>G MANE Select | NP_055400.1:n.760+111A>G |