HGVS | Genome Assembly |
---|---|
NC_000010.11:g.126036209A>C , CM000672.2:g.126036209A>C | GRCh38 |
NC_000010.10:g.127724778A>C , CM000672.1:g.127724778A>C | GRCh37 |
NC_000010.9:g.127714768A>C | NCBI36 |
NG_029050.1:g.357350T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000448723.2:c.2466T>G MANE Select | ENSP00000391268.2:p.Ala822= | |
ENST00000368679.8:c.2475T>G | ENSP00000357668.4:p.Ala825= | |
NM_001288973.1:c.2466T>G | NP_001275902.1:p.Ala822= | |
NM_003474.5:c.2475T>G | NP_003465.3:p.Ala825= | |
XM_017016705.1:c.2007T>G | XP_016872194.1:p.Ala669= | |
XM_017016706.1:c.1308T>G | XP_016872195.1:p.Ala436= | |
XM_024448210.1:c.1137T>G | XP_024303978.1:p.Ala379= | |
NM_001288973.2:c.2466T>G MANE Select | NP_001275902.1:p.Ala822= | |
NM_003474.6:c.2475T>G | NP_003465.3:p.Ala825= |