HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35826559C>A , CM000681.2:g.35826559C>A | GRCh38 |
NC_000019.9:g.36317461C>A , CM000681.1:g.36317461C>A | GRCh37 |
NC_000019.8:g.41009301C>A | NCBI36 |
NG_013356.2:g.47729G>T , LRG_693:g.47729G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378910.10:c.3681G>T MANE Select | ENSP00000368190.4:p.Leu1227= | |
ENST00000353632.6:c.3561G>T | ENSP00000343634.5:p.Leu1187= | |
ENST00000378910.9:c.3681G>T | ENSP00000368190.4:p.Leu1227= | |
NM_004646.3:c.3681G>T , LRG_693t1:c.3681G>T | NP_004637.1:p.Leu1227= | |
NM_004646.4:c.3681G>T MANE Select | NP_004637.1:p.Leu1227= |