HGVS | Genome Assembly |
---|---|
NC_000013.11:g.39506244A>G , CM000675.2:g.39506244A>G | GRCh38 |
NC_000013.10:g.40080381A>G , CM000675.1:g.40080381A>G | GRCh37 |
NC_000013.9:g.38978381A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379589.4:c.385+94588T>C MANE Select | ENSP00000368908.3:n.385+94588T>C | |
ENST00000648377.1:c.385+94588T>C | ENSP00000496801.1:n.385+94588T>C | |
ENST00000379589.3:c.385+94588T>C | ENSP00000368908.3:n.385+94588T>C | |
NM_005780.2:c.385+94588T>C | NP_005771.1:n.385+94588T>C | |
XM_011534861.1:c.385+94588T>C | XP_011533163.1:n.385+94588T>C | |
XR_941893.1:n.1694+521A>G | ||
XR_002957521.1:n.88+521A>G | ||
NM_005780.3:c.385+94588T>C MANE Select | NP_005771.1:n.385+94588T>C |