HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189008512T>C , CM000664.2:g.189008512T>C | GRCh38 |
NC_000002.11:g.189873238T>C , CM000664.1:g.189873238T>C | GRCh37 |
NC_000002.10:g.189581483T>C | NCBI36 |
NG_007404.1:g.39140T>C , LRG_3:g.39140T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.3426+370T>C | ENSP00000415346.2:n.3426+370T>C | |
ENST00000304636.9:c.3525+370T>C MANE Select | ENSP00000304408.4:n.3525+370T>C | |
ENST00000304636.7:c.3525+370T>C | ENSP00000304408.3:n.3525+370T>C | |
ENST00000317840.9:c.2616+370T>C | ENSP00000315243.6:n.2616+370T>C | |
ENST00000487010.1:n.211T>C | ||
NM_000090.3:c.3525+370T>C , LRG_3t1:c.3525+370T>C | NP_000081.1:n.3525+370T>C | |
NM_000090.4:c.3525+370T>C MANE Select | NP_000081.2:n.3525+370T>C |