HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15239389A>G , CM000681.2:g.15239389A>G | GRCh38 |
NC_000019.9:g.15350200A>G , CM000681.1:g.15350200A>G | GRCh37 |
NC_000019.8:g.15211200A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679869.1:c.3576+3T>C MANE Select | ENSP00000506350.1:n.3576+3T>C | |
ENST00000263377.6:c.3576+3T>C | ENSP00000263377.1:n.3576+3T>C | |
NM_058243.2:c.3576+3T>C | NP_490597.1:n.3576+3T>C | |
XM_011527854.1:c.3576+3T>C | XP_011526156.1:n.3576+3T>C | |
XM_011527854.2:c.3576+3T>C | XP_011526156.1:n.3576+3T>C | |
NM_001379291.1:c.3576+3T>C MANE Select | NP_001366220.1:n.3576+3T>C | |
NM_058243.3:c.3576+3T>C | NP_490597.1:n.3576+3T>C |