HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50911688A= , CM000676.2:g.50911688A= | GRCh38 |
NC_000014.8:g.51378406A= , CM000676.1:g.51378406A= | GRCh37 |
NC_000014.7:g.50448156A= | NCBI36 |
NG_012796.1:g.37843T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216392.8:c.1969+42T= MANE Select | ENSP00000216392.7:n.1969+42T= | |
ENST00000216392.7:c.1969+42T= | ENSP00000216392.7:n.1969+42T= | |
ENST00000532107.2:n.142+42T= | ||
ENST00000532462.5:c.1969+42T= | ENSP00000431657.1:n.1969+42T= | |
ENST00000544180.6:c.1867+42T= | ENSP00000443787.1:n.1867+42T= | |
NM_001163940.1:c.1867+42T= | NP_001157412.1:n.1867+42T= | |
NM_002863.4:c.1969+42T= | NP_002854.3:n.1969+42T= | |
NM_002863.5:c.1969+42T= MANE Select | NP_002854.3:n.1969+42T= | |
NM_001163940.2:c.1867+42T= | NP_001157412.1:n.1867+42T= |