HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49521195A>C , CM000668.2:g.49521195A>C | GRCh38 |
NC_000006.11:g.49488908A>C , CM000668.1:g.49488908A>C | GRCh37 |
NC_000006.10:g.49596867A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371197.9:c.314-450A>C MANE Select | ENSP00000360240.4:n.314-450A>C | |
ENST00000371197.8:c.314-450A>C | ENSP00000360240.4:n.314-450A>C | |
ENST00000545705.1:c.314-450A>C | ENSP00000440029.1:n.314-450A>C | |
NM_001010904.1:c.314-450A>C | NP_001010904.1:n.314-450A>C | |
XM_011514599.1:c.314-450A>C | XP_011512901.1:n.314-450A>C | |
NM_001010904.2:c.314-450A>C MANE Select | NP_001010904.1:n.314-450A>C |