HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215674345A>G , CM000663.2:g.215674345A>G | GRCh38 |
NC_000001.10:g.215847687A>G , CM000663.1:g.215847687A>G | GRCh37 |
NC_000001.9:g.213914310A>G | NCBI36 |
NG_009497.1:g.754052T>C | |
NG_009497.2:g.754104T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.13566T>C MANE Select | ENSP00000305941.3:p.Leu4522= | |
ENST00000674083.1:c.13566T>C | ENSP00000501296.1:p.Leu4522= | |
ENST00000307340.7:c.13566T>C | ENSP00000305941.3:p.Leu4522= | |
NM_206933.2:c.13566T>C | NP_996816.2:p.Leu4522= | |
NM_206933.3:c.13566T>C | NP_996816.2:p.Leu4522= | |
NM_206933.4:c.13566T>C MANE Select | NP_996816.3:p.Leu4522= |