HGVS | Genome Assembly |
---|---|
NC_000007.14:g.93103946T>C , CM000669.2:g.93103946T>C | GRCh38 |
NC_000007.13:g.92733259T>C , CM000669.1:g.92733259T>C | GRCh37 |
NC_000007.12:g.92571195T>C | NCBI36 |
NG_023419.1:g.19078A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379958.3:c.2152A>G MANE Select | ENSP00000369292.2:p.Ile718Val | |
ENST00000379958.2:c.2152A>G | ENSP00000369292.2:p.Ile718Val | |
ENST00000446617.1:c.2152A>G | ENSP00000414529.1:p.Ile718Val | |
ENST00000620985.4:c.2152A>G | ENSP00000484636.1:p.Ile718Val | |
NM_001193307.1:c.2152A>G | NP_001180236.1:p.Ile718Val | |
NM_017654.3:c.2152A>G | NP_060124.2:p.Ile718Val | |
NM_017654.4:c.2152A>G MANE Select | NP_060124.2:p.Ile718Val | |
NM_001193307.2:c.2152A>G | NP_001180236.1:p.Ile718Val |