HGVS | Genome Assembly |
---|---|
NC_000009.12:g.86085009C>T , CM000671.2:g.86085009C>T | GRCh38 |
NC_000009.11:g.88699924C>T , CM000671.1:g.88699924C>T | GRCh37 |
NC_000009.10:g.87889744C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000388711.7:c.-21-5668G>A | ENSP00000373363.3:n.-21-5668G>A | |
ENST00000388712.7:c.-21-5668G>A MANE Select | ENSP00000373364.3:n.-21-5668G>A | |
ENST00000466178.1:c.-111G>A | ENSP00000418155.1:n.-111G>A | |
ENST00000472919.1:n.150-5668G>A | ||
NM_016548.3:c.-21-5668G>A | NP_057632.2:n.-21-5668G>A | |
NM_177937.2:c.-21-5668G>A | NP_808800.1:n.-21-5668G>A | |
NM_016548.4:c.-21-5668G>A MANE Select | NP_057632.2:n.-21-5668G>A | |
NM_177937.3:c.-21-5668G>A | NP_808800.1:n.-21-5668G>A |