HGVS | Genome Assembly |
---|---|
NC_000008.11:g.81478612T>G , CM000670.2:g.81478612T>G | GRCh38 |
NC_000008.10:g.82390847T>G , CM000670.1:g.82390847T>G | GRCh37 |
NC_000008.9:g.82553402T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256104.5:c.*253A>C MANE Select | ENSP00000256104.4:n.*253A>C | |
ENST00000256104.4:c.*253A>C | ENSP00000256104.4:n.*253A>C | |
NM_001442.2:c.*253A>C | NP_001433.1:n.*253A>C | |
XR_001745980.1:n.514+16638T>G | ||
NM_001442.3:c.*253A>C MANE Select | NP_001433.1:n.*253A>C |