HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37733175T>C , CM000684.2:g.37733175T>C | GRCh38 |
NC_000022.10:g.38129182T>C , CM000684.1:g.38129182T>C | GRCh37 |
NC_000022.9:g.36459128T>C | NCBI36 |
NG_012857.1:g.41188T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.3948-123T>C MANE Select | ENSP00000496394.1:n.3948-123T>C | |
ENST00000344404.10:c.*3431-123T>C | ENSP00000340312.6:n.*3431-123T>C | |
ENST00000406386.7:c.3948-123T>C | ENSP00000384312.3:n.3948-123T>C | |
NM_001039141.2:c.3948-123T>C | NP_001034230.1:n.3948-123T>C | |
XM_011530646.1:c.512-2816A>G | XP_011528948.1:n.512-2816A>G | |
NM_001039141.3:c.3948-123T>C MANE Select | NP_001034230.1:n.3948-123T>C |