HGVS | Genome Assembly |
---|---|
NC_000008.11:g.37965684C>G , CM000670.2:g.37965684C>G | GRCh38 |
NC_000008.10:g.37823202C>G , CM000670.1:g.37823202C>G | GRCh37 |
NC_000008.9:g.37942359C>G | NCBI36 |
NG_011936.1:g.5983G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345060.5:c.786G>C MANE Select | ENSP00000343782.3:p.Pro262= | |
ENST00000520341.2:n.914G>C | ||
ENST00000647937.1:c.270G>C | ENSP00000497740.1:p.Pro90= | |
ENST00000345060.4:c.786G>C | ENSP00000343782.3:p.Pro262= | |
ENST00000520341.1:n.61G>C | ||
ENST00000614635.1:c.786G>C | ENSP00000480325.1:p.Pro262= | |
NM_000025.2:c.786G>C | NP_000016.1:p.Pro262= | |
NM_000025.3:c.786G>C MANE Select | NP_000016.1:p.Pro262= |