HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21176788T>C , CM000674.2:g.21176788T>C | GRCh38 |
NC_000012.11:g.21329722T>C , CM000674.1:g.21329722T>C | GRCh37 |
NC_000012.10:g.21220989T>C | NCBI36 |
NG_011745.1:g.50595T>C , LRG_1022:g.50595T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000256958.3:c.372T>C MANE Select | ENSP00000256958.2:p.Ser124= | |
ENST00000256958.2:c.372T>C | ENSP00000256958.2:p.Ser124= | |
ENST00000543498.5:c.438T>C | ||
NM_006446.4:c.372T>C , LRG_1022t1:c.372T>C | NP_006437.3:p.Ser124= | |
NM_006446.5:c.372T>C MANE Select | NP_006437.3:p.Ser124= |