HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215675452G>C , CM000663.2:g.215675452G>C | GRCh38 |
NC_000001.10:g.215848794G>C , CM000663.1:g.215848794G>C | GRCh37 |
NC_000001.9:g.213915417G>C | NCBI36 |
NG_009497.1:g.752945C>G | |
NG_009497.2:g.752997C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.12459C>G MANE Select | ENSP00000305941.3:p.Ala4153= | |
ENST00000674083.1:c.12459C>G | ENSP00000501296.1:p.Ala4153= | |
ENST00000307340.7:c.12459C>G | ENSP00000305941.3:p.Ala4153= | |
NM_206933.2:c.12459C>G | NP_996816.2:p.Ala4153= | |
NM_206933.3:c.12459C>G | NP_996816.2:p.Ala4153= | |
NM_206933.4:c.12459C>G MANE Select | NP_996816.3:p.Ala4153= |