HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154996981G>C , CM000685.2:g.154996981G>C | GRCh38 |
NC_000023.10:g.154225256G>C , CM000685.1:g.154225256G>C | GRCh37 |
NC_000023.9:g.153878450G>C | NCBI36 |
NG_011403.1:g.30743C>G | |
NG_011403.2:g.30743C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.380C>G MANE Select | ENSP00000353393.4:p.Ala127Gly | |
ENST00000647125.1:c.*166C>G | ENSP00000496062.1:n.*166C>G | |
ENST00000360256.8:c.380C>G | ENSP00000353393.4:p.Ala127Gly | |
ENST00000423959.5:c.275C>G | ENSP00000409446.1:p.Ala92Gly | |
ENST00000453950.1:c.362C>G | ENSP00000389153.1:p.Ala121Gly | |
NM_000132.3:c.380C>G | NP_000123.1:p.Ala127Gly | |
XM_011531126.1:c.275C>G | XP_011529428.1:p.Ala92Gly | |
NM_000132.4:c.380C>G MANE Select | NP_000123.1:p.Ala127Gly |