HGVS | Genome Assembly |
---|---|
NC_000020.11:g.62216348C>G , CM000682.2:g.62216348C>G | GRCh38 |
NC_000020.10:g.60791404C>G , CM000682.1:g.60791404C>G | GRCh37 |
NC_000020.9:g.60224799C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000340177.10:c.996G>C MANE Select | ENSP00000342560.5:p.Ser332= | |
ENST00000317393.10:c.822-66G>C | ENSP00000321482.7:n.822-66G>C | |
ENST00000340177.9:c.996G>C | ENSP00000342560.5:p.Ser332= | |
ENST00000611492.1:c.587G>C | ENSP00000482567.1:p.Arg196Pro | |
NM_007232.2:c.996G>C | NP_009163.2:p.Ser332= | |
XM_005260266.2:c.996G>C | XP_005260323.1:p.Ser332= | |
XM_005260267.3:c.822-66G>C | XP_005260324.1:n.822-66G>C | |
XM_005260266.3:c.996G>C | XP_005260323.1:p.Ser332= | |
XM_017027623.1:c.834G>C | XP_016883112.1:p.Ser278= | |
NM_007232.3:c.996G>C MANE Select | NP_009163.2:p.Ser332= |