HGVS | Genome Assembly |
---|---|
NC_000004.12:g.42001579T>C , CM000666.2:g.42001579T>C | GRCh38 |
NC_000004.11:g.42003596T>C , CM000666.1:g.42003596T>C | GRCh37 |
NC_000004.10:g.41698353T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264451.12:c.110-37T>C MANE Select | ENSP00000264451.6:n.110-37T>C | |
ENST00000264451.11:c.110-37T>C | ENSP00000264451.6:n.110-37T>C | |
ENST00000510460.1:n.235-37T>C | ||
ENST00000513699.5:c.110-37T>C | ENSP00000423529.1:n.110-37T>C | |
NM_006345.3:c.110-37T>C | NP_006336.3:n.110-37T>C | |
XM_011513620.1:c.110-37T>C | XP_011511922.1:n.110-37T>C | |
XM_017007654.2:c.110-37T>C | XP_016863143.1:n.110-37T>C | |
XR_001741095.2:n.260-37T>C | ||
NM_006345.4:c.110-37T>C MANE Select | NP_006336.3:n.110-37T>C |