HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112830611G>A , CM000664.2:g.112830611G>A | GRCh38 |
NC_000002.11:g.113588188G>A , CM000664.1:g.113588188G>A | GRCh37 |
NC_000002.10:g.113304659G>A | NCBI36 |
NG_008851.1:g.11169C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263341.7:c.598-38C>T MANE Select | ENSP00000263341.2:n.598-38C>T | |
ENST00000263341.6:c.598-38C>T | ENSP00000263341.2:n.598-38C>T | |
ENST00000491056.5:n.1405-38C>T | ||
NM_000576.2:c.598-38C>T | NP_000567.1:n.598-38C>T | |
XM_006712496.1:c.364-38C>T | XP_006712559.1:n.364-38C>T | |
XM_017003988.2:c.505-38C>T | XP_016859477.1:n.505-38C>T | |
NM_000576.3:c.598-38C>T MANE Select | NP_000567.1:n.598-38C>T |