HGVS | Genome Assembly |
---|---|
NC_000012.12:g.20378822T>C , CM000674.2:g.20378822T>C | GRCh38 |
NC_000012.11:g.20531756T>C , CM000674.1:g.20531756T>C | GRCh37 |
NC_000012.10:g.20423023T>C | NCBI36 |
NG_030033.1:g.14578T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359062.4:c.960+8578T>C MANE Select | ENSP00000351957.3:n.960+8578T>C | |
ENST00000359062.3:c.960+8578T>C | ENSP00000351957.3:n.960+8578T>C | |
ENST00000542675.1:n.120+8578T>C | ||
NM_000921.4:c.960+8578T>C | NP_000912.3:n.960+8578T>C | |
XM_006719086.2:c.960+8578T>C | XP_006719149.2:n.960+8578T>C | |
XM_017019420.1:c.960+8578T>C | XP_016874909.1:n.960+8578T>C | |
NM_000921.5:c.960+8578T>C MANE Select | NP_000912.3:n.960+8578T>C | |
NM_001378407.1:c.960+8578T>C | NP_001365336.1:n.960+8578T>C | |
NM_001378408.1:c.-69+8578T>C | NP_001365337.1:n.-69+8578T>C |