HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764464G>C , CM000674.2:g.57764464G>C | GRCh38 |
NC_000012.11:g.58158247G>C , CM000674.1:g.58158247G>C | GRCh37 |
NC_000012.10:g.56444514G>C | NCBI36 |
NG_007076.1:g.7730C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1131C>G | ENSP00000518840.1:p.Ala377= | |
ENST00000713545.1:c.*55C>G | ENSP00000518841.1:n.*55C>G | |
ENST00000228606.9:c.1050C>G MANE Select | ENSP00000228606.4:p.Ala350= | |
ENST00000228606.8:c.1050C>G | ENSP00000228606.4:p.Ala350= | |
ENST00000546567.5:c.345C>G | ENSP00000449472.1:p.Ala115= | |
ENST00000547344.5:n.1189C>G | ||
NM_000785.3:c.1050C>G | NP_000776.1:p.Ala350= | |
NM_000785.4:c.1050C>G MANE Select | NP_000776.1:p.Ala350= |