HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196996065T>C , CM000663.2:g.196996065T>C | GRCh38 |
NC_000001.10:g.196965195T>C , CM000663.1:g.196965195T>C | GRCh37 |
NC_000001.9:g.195231818T>C | NCBI36 |
NG_016365.1:g.23529T>C , LRG_227:g.23529T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699466.1:c.579T>C | ENSP00000514393.1:p.Gly193= | |
ENST00000699467.1:n.903T>C | ||
ENST00000699468.1:c.-24-49T>C | ENSP00000514394.1:n.-24-49T>C | |
ENST00000256785.5:c.834T>C MANE Select | ENSP00000256785.4:p.Gly278= | |
ENST00000256785.4:c.834T>C | ENSP00000256785.4:p.Gly278= | |
NM_030787.3:c.834T>C , LRG_227t1:c.834T>C | NP_110414.1:p.Gly278= | |
XM_011510020.1:c.843T>C | XP_011508322.1:p.Gly281= | |
XM_011510020.2:c.843T>C | XP_011508322.1:p.Gly281= | |
NM_030787.4:c.834T>C MANE Select | NP_110414.1:p.Gly278= |