HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454132T>C , CM000679.2:g.7454132T>C | GRCh38 |
NC_000017.10:g.7357451T>C , CM000679.1:g.7357451T>C | GRCh37 |
NC_000017.9:g.7298175T>C | NCBI36 |
NG_008026.1:g.14046T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.821-165T>C MANE Select | ENSP00000304290.2:n.821-165T>C | |
ENST00000306071.6:c.821-165T>C | ENSP00000304290.2:n.821-165T>C | |
ENST00000536404.6:c.605-165T>C | ENSP00000439209.2:n.605-165T>C | |
ENST00000570557.5:c.484-165T>C | ||
ENST00000573209.1:n.1765-165T>C | ||
ENST00000576360.1:c.605-312T>C | ENSP00000459092.1:n.605-312T>C | |
NM_000747.2:c.821-165T>C | NP_000738.2:n.821-165T>C | |
NM_000747.3:c.821-165T>C MANE Select | NP_000738.2:n.821-165T>C |