HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154837605G>C , CM000685.2:g.154837605G>C | GRCh38 |
NC_000023.10:g.154065880G>C , CM000685.1:g.154065880G>C | GRCh37 |
NC_000023.9:g.153719074G>C | NCBI36 |
NG_011403.1:g.190119C>G | |
NG_033065.1:g.2058C>G | |
NG_011403.2:g.190119C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.7048C>G MANE Select | ENSP00000353393.4:p.Leu2350Val | |
ENST00000644698.1:c.781C>G | ENSP00000495706.1:p.Leu261Val | |
ENST00000330287.10:c.643C>G | ENSP00000327895.6:p.Leu215Val | |
ENST00000360256.8:c.7048C>G | ENSP00000353393.4:p.Leu2350Val | |
NM_000132.3:c.7048C>G | NP_000123.1:p.Leu2350Val | |
NM_019863.2:c.643C>G | NP_063916.1:p.Leu215Val | |
XM_011531126.1:c.6943C>G | XP_011529428.1:p.Leu2315Val | |
NM_000132.4:c.7048C>G MANE Select | NP_000123.1:p.Leu2350Val | |
NM_019863.3:c.643C>G | NP_063916.1:p.Leu215Val |