HGVS | Genome Assembly |
---|---|
NC_000001.11:g.216246630A>C , CM000663.2:g.216246630A>C | GRCh38 |
NC_000001.10:g.216419972A>C , CM000663.1:g.216419972A>C | GRCh37 |
NC_000001.9:g.214486595A>C | NCBI36 |
NG_009497.1:g.181767T>G | |
NG_009497.2:g.181819T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.2764T>G MANE Select | ENSP00000305941.3:p.Cys922Gly | |
ENST00000674083.1:c.2764T>G | ENSP00000501296.1:p.Cys922Gly | |
ENST00000307340.7:c.2764T>G | ENSP00000305941.3:p.Cys922Gly | |
ENST00000366942.3:c.2764T>G | ENSP00000355909.3:p.Cys922Gly | |
NM_007123.5:c.2764T>G | NP_009054.5:p.Cys922Gly | |
NM_206933.2:c.2764T>G | NP_996816.2:p.Cys922Gly | |
NM_206933.3:c.2764T>G | NP_996816.2:p.Cys922Gly | |
NM_007123.6:c.2764T>G | NP_009054.6:p.Cys922Gly | |
NM_206933.4:c.2764T>G MANE Select | NP_996816.3:p.Cys922Gly |