HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40397392C>T , CM000681.2:g.40397392C>T | GRCh38 |
NC_000019.9:g.40903299C>T , CM000681.1:g.40903299C>T | GRCh37 |
NC_000019.8:g.45595139C>T | NCBI36 |
NG_007979.1:g.20973G>A , LRG_265:g.20973G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000324001.8:c.960G>A MANE Select | ENSP00000326018.6:p.Ser320= | |
ENST00000673881.1:c.543G>A | ENSP00000501070.1:p.Ser181= | |
ENST00000674005.2:c.1245G>A | ENSP00000501261.1:p.Ser415= | |
ENST00000674773.1:c.543G>A | ENSP00000502579.1:p.Ser181= | |
ENST00000675517.1:c.835G>A | ||
ENST00000676076.1:c.821G>A | ||
ENST00000676260.1:c.922G>A | ||
ENST00000676316.1:c.847G>A | ||
ENST00000291825.11:c.*1165G>A | ENSP00000291825.6:n.*1165G>A | |
ENST00000324001.7:c.960G>A | ENSP00000326018.6:p.Ser320= | |
NM_020956.2:c.*1165G>A , LRG_265t1:c.*1165G>A | NP_066007.1:n.*1165G>A | |
NM_181882.2:c.960G>A , LRG_265t2:c.960G>A | NP_870998.2:p.Ser320= | |
XM_011527171.1:c.960G>A | XP_011525473.1:p.Ser320= | |
XM_011527171.2:c.960G>A | XP_011525473.1:p.Ser320= | |
XM_017027046.1:c.858G>A | XP_016882535.1:p.Ser286= | |
XM_017027047.1:c.858G>A | XP_016882536.1:p.Ser286= | |
NM_181882.3:c.960G>A MANE Select | NP_870998.2:p.Ser320= |