HGVS | Genome Assembly |
---|---|
NC_000004.12:g.185144947T>C , CM000666.2:g.185144947T>C | GRCh38 |
NC_000004.11:g.186066101T>C , CM000666.1:g.186066101T>C | GRCh37 |
NC_000004.10:g.186303095T>C | NCBI36 |
NG_013001.1:g.6685T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281456.11:c.295T>C MANE Select | ENSP00000281456.5:p.Phe99Leu | |
ENST00000281456.10:c.295T>C | ENSP00000281456.5:p.Phe99Leu | |
ENST00000491736.1:c.295T>C | ENSP00000476711.1:p.Phe99Leu | |
NM_001151.3:c.295T>C | NP_001142.2:p.Phe99Leu | |
NM_001151.4:c.295T>C MANE Select | NP_001142.2:p.Phe99Leu |