HGVS | Genome Assembly |
---|---|
NC_000012.12:g.91055630A>C , CM000674.2:g.91055630A>C | GRCh38 |
NC_000012.11:g.91449407A>C , CM000674.1:g.91449407A>C | GRCh37 |
NC_000012.10:g.89973538A>C | NCBI36 |
NG_021223.1:g.7725T>G , LRG_538:g.7725T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266719.4:c.652T>G MANE Select | ENSP00000266719.3:p.Leu218Val | |
ENST00000266719.3:c.652T>G | ENSP00000266719.3:p.Leu218Val | |
NM_007035.3:c.652T>G , LRG_538t1:c.652T>G | NP_008966.1:p.Leu218Val | |
XM_011537781.1:c.652T>G | XP_011536083.1:p.Leu218Val | |
NM_007035.4:c.652T>G MANE Select | NP_008966.1:p.Leu218Val |