HGVS | Genome Assembly |
---|---|
NC_000004.12:g.185144719T>C , CM000666.2:g.185144719T>C | GRCh38 |
NC_000004.11:g.186065873T>C , CM000666.1:g.186065873T>C | GRCh37 |
NC_000004.10:g.186302867T>C | NCBI36 |
NG_013001.1:g.6457T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281456.11:c.112-45T>C MANE Select | ENSP00000281456.5:n.112-45T>C | |
ENST00000281456.10:c.112-45T>C | ENSP00000281456.5:n.112-45T>C | |
ENST00000491736.1:c.112-45T>C | ENSP00000476711.1:n.112-45T>C | |
NM_001151.3:c.112-45T>C | NP_001142.2:n.112-45T>C | |
NM_001151.4:c.112-45T>C MANE Select | NP_001142.2:n.112-45T>C |