HGVS | Genome Assembly |
---|---|
NC_000022.11:g.38436025T>G , CM000684.2:g.38436025T>G | GRCh38 |
NC_000022.10:g.38832030T>G , CM000684.1:g.38832030T>G | GRCh37 |
NC_000022.9:g.37161976T>G | NCBI36 |
NG_050625.1:g.24175A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000303592.3:c.-39-7854A>C MANE Select | ENSP00000306497.3:n.-39-7854A>C | |
NM_004981.1:c.-39-7854A>C | NP_004972.1:n.-39-7854A>C | |
NM_152868.2:c.-39-7854A>C | NP_690607.1:n.-39-7854A>C | |
XR_938251.1:n.207-278T>G | ||
XR_001755539.1:n.939-278T>G | ||
XR_938251.2:n.499-278T>G | ||
NM_152868.3:c.-39-7854A>C MANE Select | NP_690607.1:n.-39-7854A>C | |
NM_004981.2:c.-39-7854A>C | NP_004972.1:n.-39-7854A>C |