HGVS | Genome Assembly |
---|---|
NC_000017.11:g.21380916C>T , CM000679.2:g.21380916C>T | GRCh38 |
NC_000017.10:g.21284228C>T , CM000679.1:g.21284228C>T | GRCh37 |
NC_000017.9:g.21224821C>T | NCBI36 |
NG_042809.1:g.9530C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000583088.6:c.-179+4003C>T MANE Select | ENSP00000463778.1:n.-179+4003C>T | |
ENST00000583088.5:c.-179+4003C>T | ENSP00000463778.1:n.-179+4003C>T | |
NM_021012.4:c.-179+4003C>T | NP_066292.2:n.-179+4003C>T | |
XM_005256625.3:c.-179+3590C>T | XP_005256682.1:n.-179+3590C>T | |
XM_005256625.5:c.-179+3590C>T | XP_005256682.1:n.-179+3590C>T | |
NM_021012.5:c.-179+4003C>T MANE Select | NP_066292.2:n.-179+4003C>T |