HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131846814G>T , CM000668.2:g.131846814G>T | GRCh38 |
NC_000006.11:g.132167954G>T , CM000668.1:g.132167954G>T | GRCh37 |
NC_000006.10:g.132209647G>T | NCBI36 |
NG_008206.1:g.43799G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684147.1:n.519-962G>T | ||
ENST00000647893.1:c.241-962G>T MANE Select | ENSP00000498074.1:n.241-962G>T | |
ENST00000650507.1:c.248-962G>T | ENSP00000497375.1:n.248-962G>T | |
ENST00000360971.6:c.241-962G>T | ENSP00000354238.2:n.241-962G>T | |
ENST00000486853.1:n.261-962G>T | ||
ENST00000513998.5:c.241-962G>T | ENSP00000422424.1:n.241-962G>T | |
NM_006208.2:c.241-962G>T | NP_006199.2:n.241-962G>T | |
NM_006208.3:c.241-962G>T MANE Select | NP_006199.2:n.241-962G>T |