HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91620369A>G , CM000676.2:g.91620369A>G | GRCh38 |
NC_000014.8:g.92086713A>G , CM000676.1:g.92086713A>G | GRCh37 |
NC_000014.7:g.91156466A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256343.8:c.2260+1239T>C MANE Select | ENSP00000256343.3:n.2260+1239T>C | |
ENST00000256343.7:c.2260+1239T>C | ENSP00000256343.3:n.2260+1239T>C | |
ENST00000557036.1:c.945+1239T>C | ENSP00000451083.1:n.945+1239T>C | |
NM_024764.3:c.2260+1239T>C | NP_079040.2:n.2260+1239T>C | |
NM_024764.4:c.2260+1239T>C MANE Select | NP_079040.2:n.2260+1239T>C |