HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764112T>G , CM000674.2:g.57764112T>G | GRCh38 |
NC_000012.11:g.58157895T>G , CM000674.1:g.58157895T>G | GRCh37 |
NC_000012.10:g.56444162T>G | NCBI36 |
NG_007076.1:g.8082A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000713544.1:c.1282A>C | ENSP00000518840.1:p.Ile428Leu | |
ENST00000713545.1:c.*206A>C | ENSP00000518841.1:n.*206A>C | |
ENST00000228606.9:c.1201A>C MANE Select | ENSP00000228606.4:p.Ile401Leu | |
ENST00000228606.8:c.1201A>C | ENSP00000228606.4:p.Ile401Leu | |
ENST00000547344.5:n.1340A>C | ||
NM_000785.3:c.1201A>C | NP_000776.1:p.Ile401Leu | |
NM_000785.4:c.1201A>C MANE Select | NP_000776.1:p.Ile401Leu |