HGVS | Genome Assembly |
---|---|
NC_000017.11:g.66228059G>C , CM000679.2:g.66228059G>C | GRCh38 |
NC_000017.10:g.64224177G>C , CM000679.1:g.64224177G>C | GRCh37 |
NC_000017.9:g.61654639G>C | NCBI36 |
NG_012045.1:g.6380C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000205948.11:c.202C>G MANE Select | ENSP00000205948.6:p.Leu68Val | |
ENST00000205948.10:c.202C>G | ENSP00000205948.6:p.Leu68Val | |
ENST00000577982.1:c.202C>G | ENSP00000464301.1:p.Leu68Val | |
ENST00000581797.5:c.22C>G | ENSP00000463553.1:p.Leu8Val | |
NM_000042.2:c.202C>G | NP_000033.2:p.Leu68Val | |
NM_000042.3:c.202C>G MANE Select | NP_000033.2:p.Leu68Val |