HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112832714A>T , CM000664.2:g.112832714A>T | GRCh38 |
NC_000002.11:g.113590291A>T , CM000664.1:g.113590291A>T | GRCh37 |
NC_000002.10:g.113306762A>T | NCBI36 |
NG_008851.1:g.9066T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263341.7:c.414T>A MANE Select | ENSP00000263341.2:p.Gly138= | |
ENST00000263341.6:c.414T>A | ENSP00000263341.2:p.Gly138= | |
ENST00000418817.5:c.414T>A | ENSP00000407219.1:p.Gly138= | |
ENST00000487639.1:n.315T>A | ||
ENST00000491056.5:n.1221T>A | ||
NM_000576.2:c.414T>A | NP_000567.1:p.Gly138= | |
XM_006712496.1:c.180T>A | XP_006712559.1:p.Gly60= | |
XM_017003988.2:c.321T>A | XP_016859477.1:p.Gly107= | |
NM_000576.3:c.414T>A MANE Select | NP_000567.1:p.Gly138= |