HGVS | Genome Assembly |
---|---|
NC_000012.12:g.114672123C>G , CM000674.2:g.114672123C>G | GRCh38 |
NC_000012.11:g.115109928C>G , CM000674.1:g.115109928C>G | GRCh37 |
NC_000012.10:g.113594311C>G | NCBI36 |
NG_008315.1:g.17042G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000349155.7:c.1890G>C MANE Select | ENSP00000257567.2:p.Pro630= | |
ENST00000257566.7:c.1950G>C | ENSP00000257566.3:p.Pro650= | |
ENST00000349155.6:c.1890G>C | ENSP00000257567.2:p.Pro630= | |
ENST00000613550.1:c.1887G>C | ENSP00000480048.1:p.Pro629= | |
NM_005996.3:c.1890G>C | NP_005987.3:p.Pro630= | |
NM_016569.3:c.1950G>C | NP_057653.3:p.Pro650= | |
NM_005996.4:c.1890G>C MANE Select | NP_005987.3:p.Pro630= | |
NM_016569.4:c.1950G>C | NP_057653.3:p.Pro650= |