HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65240008T>C , CM000674.2:g.65240008T>C | GRCh38 |
NC_000012.11:g.65633788T>C , CM000674.1:g.65633788T>C | GRCh37 |
NC_000012.10:g.63920055T>C | NCBI36 |
NG_016210.1:g.75438T>C | |
NG_016210.2:g.75438T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.2001T>C MANE Select | ENSP00000308369.2:p.Tyr667= | |
ENST00000308330.2:c.2001T>C | ENSP00000308369.2:p.Tyr667= | |
NM_001167614.1:c.1998T>C | NP_001161086.1:p.Tyr666= | |
NM_014319.4:c.2001T>C | NP_055134.2:p.Tyr667= | |
NM_014319.5:c.2001T>C MANE Select | NP_055134.2:p.Tyr667= | |
NM_001167614.2:c.1998T>C | NP_001161086.1:p.Tyr666= |