HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189563949A>G , CM000664.2:g.189563949A>G | GRCh38 |
NC_000002.11:g.190428675A>G , CM000664.1:g.190428675A>G | GRCh37 |
NC_000002.10:g.190136920A>G | NCBI36 |
NG_009027.1:g.21863T>C , LRG_837:g.21863T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261024.7:c.1037T>C MANE Select | ENSP00000261024.3:p.Met346Thr | |
ENST00000261024.6:c.1037T>C | ENSP00000261024.2:p.Met346Thr | |
NM_014585.5:c.1037T>C , LRG_837t1:c.1037T>C | NP_055400.1:p.Met346Thr | |
XM_005246505.1:c.917T>C | XP_005246562.1:p.Met306Thr | |
XM_005246505.2:c.917T>C | XP_005246562.1:p.Met306Thr | |
XM_017003938.2:c.917T>C | XP_016859427.1:p.Met306Thr | |
NM_014585.6:c.1037T>C MANE Select | NP_055400.1:p.Met346Thr |