HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154860448T>C , CM000685.2:g.154860448T>C | GRCh38 |
NC_000023.10:g.154088723T>C , CM000685.1:g.154088723T>C | GRCh37 |
NC_000023.9:g.153741917T>C | NCBI36 |
NG_011403.1:g.167276A>G | |
NG_011403.2:g.167276A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6884A>G MANE Select | ENSP00000353393.4:p.Gln2295Arg | |
ENST00000644698.1:c.617A>G | ENSP00000495706.1:p.Gln206Arg | |
ENST00000330287.10:c.479A>G | ENSP00000327895.6:p.Gln160Arg | |
ENST00000360256.8:c.6884A>G | ENSP00000353393.4:p.Gln2295Arg | |
NM_000132.3:c.6884A>G | NP_000123.1:p.Gln2295Arg | |
NM_019863.2:c.479A>G | NP_063916.1:p.Gln160Arg | |
XM_011531126.1:c.6779A>G | XP_011529428.1:p.Gln2260Arg | |
NM_000132.4:c.6884A>G MANE Select | NP_000123.1:p.Gln2295Arg | |
NM_019863.3:c.479A>G | NP_063916.1:p.Gln160Arg |