HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31524783T>C , CM000680.2:g.31524783T>C | GRCh38 |
NC_000018.9:g.29104746T>C , CM000680.1:g.29104746T>C | GRCh37 |
NC_000018.8:g.27358744T>C | NCBI36 |
NG_007072.3:g.31542T>C , LRG_397:g.31542T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682087.2:n.740T>C | ||
ENST00000683614.2:n.740T>C | ||
ENST00000682087.1:c.740T>C | ||
ENST00000683614.1:c.740T>C | ||
ENST00000261590.13:c.909T>C MANE Select | ENSP00000261590.8:p.Ser303= | |
ENST00000261590.12:c.909T>C | ENSP00000261590.8:p.Ser303= | |
NM_001943.3:c.909T>C , LRG_397t1:c.909T>C | NP_001934.2:p.Ser303= | |
NM_001943.4:c.909T>C | NP_001934.2:p.Ser303= | |
XM_024451095.1:c.375T>C | XP_024306863.1:p.Ser125= | |
NM_001943.5:c.909T>C MANE Select | NP_001934.2:p.Ser303= |