HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112830630A>G , CM000664.2:g.112830630A>G | GRCh38 |
NC_000002.11:g.113588207A>G , CM000664.1:g.113588207A>G | GRCh37 |
NC_000002.10:g.113304678A>G | NCBI36 |
NG_008851.1:g.11150T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263341.7:c.598-57T>C MANE Select | ENSP00000263341.2:n.598-57T>C | |
ENST00000263341.6:c.598-57T>C | ENSP00000263341.2:n.598-57T>C | |
ENST00000491056.5:n.1405-57T>C | ||
NM_000576.2:c.598-57T>C | NP_000567.1:n.598-57T>C | |
XM_006712496.1:c.364-57T>C | XP_006712559.1:n.364-57T>C | |
XM_017003988.2:c.505-57T>C | XP_016859477.1:n.505-57T>C | |
NM_000576.3:c.598-57T>C MANE Select | NP_000567.1:n.598-57T>C |