HGVS | Genome Assembly |
---|---|
NC_000012.12:g.111803875G>T , CM000674.2:g.111803875G>T | GRCh38 |
NC_000012.11:g.112241679G>T , CM000674.1:g.112241679G>T | GRCh37 |
NC_000012.10:g.110726062G>T | NCBI36 |
NG_012250.1:g.42334G>T | |
NG_012250.2:g.41989G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261733.7:c.1423G>T MANE Select | ENSP00000261733.2:p.Val475Leu | |
ENST00000261733.6:c.1423G>T | ENSP00000261733.2:p.Val475Leu | |
ENST00000416293.7:c.1282G>T | ENSP00000403349.3:p.Val428Leu | |
ENST00000548536.1:c.*1299G>T | ENSP00000448179.1:n.*1299G>T | |
ENST00000549106.1:c.354G>T | ||
NM_000690.3:c.1423G>T | NP_000681.2:p.Val475Leu | |
NM_001204889.1:c.1282G>T | NP_001191818.1:p.Val428Leu | |
NM_000690.4:c.1423G>T MANE Select | NP_000681.2:p.Val475Leu | |
NM_001204889.2:c.1282G>T | NP_001191818.1:p.Val428Leu |