HGVS | Genome Assembly |
---|---|
NC_000002.12:g.162267542T>C , CM000664.2:g.162267542T>C | GRCh38 |
NC_000002.11:g.163124052T>C , CM000664.1:g.163124052T>C | GRCh37 |
NC_000002.10:g.162832298T>C | NCBI36 |
NG_011495.1:g.55988A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000697291.1:c.*2432A>G | ENSP00000513228.1:n.*2432A>G | |
ENST00000648433.1:c.2718A>G | ENSP00000496816.1:p.Lys906= | |
ENST00000649426.1:n.596A>G | ||
ENST00000649554.1:n.2445A>G | ||
ENST00000649979.2:c.2835A>G MANE Select | ENSP00000497271.1:p.Lys945= | |
ENST00000679938.1:c.2523A>G | ENSP00000505518.1:p.Lys841= | |
ENST00000263642.2:c.2835A>G | ENSP00000263642.2:p.Lys945= | |
NM_022168.3:c.2835A>G | NP_071451.2:p.Lys945= | |
XM_011511628.1:c.2118A>G | XP_011509930.1:p.Lys706= | |
NM_022168.4:c.2835A>G MANE Select | NP_071451.2:p.Lys945= |