HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115730884G>A , CM000663.2:g.115730884G>A | GRCh38 |
NC_000001.10:g.116273505G>A , CM000663.1:g.116273505G>A | GRCh37 |
NC_000001.9:g.116075028G>A | NCBI36 |
NG_008802.1:g.42922C>T , LRG_404:g.42922C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000488931.2:c.425+1230C>T | ENSP00000518226.1:n.425+1230C>T | |
ENST00000261448.6:c.606+2017C>T MANE Select | ENSP00000261448.5:n.606+2017C>T | |
ENST00000261448.5:c.606+2017C>T | ENSP00000261448.5:n.606+2017C>T | |
ENST00000488931.1:n.122+1230C>T | ||
NM_001232.3:c.606+2017C>T , LRG_404t1:c.606+2017C>T | NP_001223.2:n.606+2017C>T | |
NM_001232.4:c.606+2017C>T MANE Select | NP_001223.2:n.606+2017C>T |