HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863255T>C , CM000672.2:g.87863255T>C | GRCh38 |
NC_000010.10:g.89623012T>C , CM000672.1:g.89623012T>C | GRCh37 |
NC_000010.9:g.89612992T>C | NCBI36 |
NG_007466.2:g.4818T>C , LRG_311:g.4818T>C | |
NG_033079.1:g.5183A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+613T>C (PTEN) | ENSP00000516674.1:n.-17+613T>C | |
ENST00000688308.1:c.-17+142T>C (PTEN) | ENSP00000508752.1:n.-17+142T>C | |
ENST00000445946.5:c.-768A>G (KLLN) MANE Select | ENSP00000392204.2:n.-768A>G | |
ENST00000371953.7:c.-1215T>C (PTEN) | ENSP00000361021.3:n.-1215T>C | |
ENST00000445946.3:c.-768A>G (KLLN) | ENSP00000392204.2:n.-768A>G | |
NM_001126049.1:c.-768A>G (KLLN) | NP_001119521.1:n.-768A>G | |
NM_001126049.2:c.-768A>G (KLLN) MANE Select | NP_001119521.1:n.-768A>G |