HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96145005G>C , CM000670.2:g.96145005G>C | GRCh38 |
NC_000008.10:g.97157233G>C , CM000670.1:g.97157233G>C | GRCh37 |
NC_000008.9:g.97226409G>C | NCBI36 |
NG_008981.1:g.20788C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287020.7:c.926C>G MANE Select | ENSP00000287020.4:p.Ala309Gly | |
ENST00000287020.6:c.926C>G | ENSP00000287020.4:p.Ala309Gly | |
ENST00000620978.1:c.793+71C>G | ENSP00000480170.1:n.793+71C>G | |
ENST00000621429.1:c.874+52C>G | ENSP00000483711.1:n.874+52C>G | |
NM_001001557.2:c.926C>G | NP_001001557.1:p.Ala309Gly | |
XM_011517030.1:c.527C>G | XP_011515332.1:p.Ala176Gly | |
NM_001001557.3:c.926C>G | NP_001001557.1:p.Ala309Gly | |
NM_001001557.4:c.926C>G MANE Select | NP_001001557.1:p.Ala309Gly |