HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110812520C>G , CM000672.2:g.110812520C>G | GRCh38 |
NC_000010.10:g.112572278C>G , CM000672.1:g.112572278C>G | GRCh37 |
NC_000010.9:g.112562268C>G | NCBI36 |
NG_021177.1:g.173124C>G , LRG_382:g.173124C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369519.4:c.2123C>G MANE Select | ENSP00000358532.3:p.Ala708Gly | |
ENST00000369519.3:c.2123C>G | ENSP00000358532.3:p.Ala708Gly | |
NM_001134363.2:c.2123C>G | NP_001127835.2:p.Ala708Gly | |
XM_011539697.1:c.1739C>G | XP_011537999.1:p.Ala580Gly | |
XM_017016103.2:c.1958C>G | XP_016871592.1:p.Ala653Gly | |
XM_017016104.2:c.1739C>G | XP_016871593.1:p.Ala580Gly | |
NM_001134363.3:c.2123C>G MANE Select | NP_001127835.2:p.Ala708Gly |