HGVS | Genome Assembly |
---|---|
NC_000015.10:g.64162870C>G , CM000677.2:g.64162870C>G | GRCh38 |
NC_000015.9:g.64455069C>G , CM000677.1:g.64455069C>G | GRCh37 |
NC_000015.8:g.62242122C>G | NCBI36 |
NG_012979.1:g.5286G>C , LRG_10:g.5286G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000300026.4:c.117G>C MANE Select | ENSP00000300026.4:p.Gly39= | |
ENST00000561048.2:n.150G>C | ||
ENST00000680158.1:c.117G>C | ENSP00000504873.1:p.Gly39= | |
ENST00000681397.1:c.117G>C | ENSP00000506584.1:p.Gly39= | |
ENST00000681658.1:c.30+87G>C | ENSP00000505431.1:n.30+87G>C | |
ENST00000300026.3:c.117G>C | ENSP00000300026.3:p.Gly39= | |
ENST00000558492.1:n.137G>C | ||
ENST00000561048.1:n.152G>C | ||
NM_000942.4:c.117G>C , LRG_10t1:c.117G>C | NP_000933.1:p.Gly39= | |
NM_000942.5:c.117G>C MANE Select | NP_000933.1:p.Gly39= |