HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189571695A>G , CM000664.2:g.189571695A>G | GRCh38 |
NC_000002.11:g.190436421A>G , CM000664.1:g.190436421A>G | GRCh37 |
NC_000002.10:g.190144666A>G | NCBI36 |
NG_009027.1:g.14117T>C , LRG_837:g.14117T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261024.7:c.514+20T>C MANE Select | ENSP00000261024.3:n.514+20T>C | |
ENST00000261024.6:c.514+20T>C | ENSP00000261024.2:n.514+20T>C | |
ENST00000427241.5:c.514+20T>C | ENSP00000390005.1:n.514+20T>C | |
NM_014585.5:c.514+20T>C , LRG_837t1:c.514+20T>C | NP_055400.1:n.514+20T>C | |
XM_005246505.1:c.394+20T>C | XP_005246562.1:n.394+20T>C | |
XM_005246505.2:c.394+20T>C | XP_005246562.1:n.394+20T>C | |
XM_017003938.2:c.394+20T>C | XP_016859427.1:n.394+20T>C | |
NM_014585.6:c.514+20T>C MANE Select | NP_055400.1:n.514+20T>C |