HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73442362T>C , CM000666.2:g.73442362T>C | GRCh38 |
NC_000004.11:g.74308079T>C , CM000666.1:g.74308079T>C | GRCh37 |
NC_000004.10:g.74526943T>C | NCBI36 |
NG_023028.1:g.11147T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395792.7:c.549T>C MANE Select | ENSP00000379138.2:p.Ala183= | |
ENST00000226359.2:c.549T>C | ENSP00000226359.2:p.Ala183= | |
ENST00000395792.6:c.549T>C | ENSP00000379138.2:p.Ala183= | |
NM_001134.2:c.549T>C | NP_001125.1:p.Ala183= | |
XM_011531704.1:c.546T>C | XP_011530006.1:p.Ala182= | |
NM_001354717.1:c.75T>C | NP_001341646.1:p.Ala25= | |
NM_001134.3:c.549T>C MANE Select | NP_001125.1:p.Ala183= | |
NM_001354717.2:c.75T>C | NP_001341646.2:p.Ala25= |