HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225549C>G , CM000668.2:g.3225549C>G | GRCh38 |
NC_000006.11:g.3225783C>G , CM000668.1:g.3225783C>G | GRCh37 |
NC_000006.10:g.3170782C>G | NCBI36 |
NG_016715.1:g.7186G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259818.8:c.540G>C MANE Select | ENSP00000259818.6:p.Val180= | |
ENST00000680070.1:n.1470G>C | ||
ENST00000681707.1:n.1367G>C | ||
ENST00000681757.1:n.845G>C | ||
ENST00000259818.7:c.540G>C | ENSP00000259818.6:p.Val180= | |
ENST00000473006.1:n.657G>C | ||
NM_178012.4:c.540G>C | NP_821080.1:p.Val180= | |
XM_011514571.1:c.324G>C | XP_011512873.1:p.Val108= | |
NM_178012.5:c.540G>C MANE Select | NP_821080.1:p.Val180= |