HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152660647A>C , CM000669.2:g.152660647A>C | GRCh38 |
NC_000007.13:g.152357732A>C , CM000669.1:g.152357732A>C | GRCh37 |
NC_000007.12:g.151988665A>C | NCBI36 |
NG_027988.1:g.20519T>G | |
NG_027988.2:g.20519T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698506.1:c.-47-11284T>G | ENSP00000513758.1:n.-47-11284T>G | |
ENST00000698507.1:n.243T>G | ||
ENST00000359321.2:c.121+54T>G MANE Select | ENSP00000352271.1:n.121+54T>G | |
ENST00000359321.1:c.121+54T>G | ENSP00000352271.1:n.121+54T>G | |
ENST00000495707.1:n.143+54T>G | ||
NM_005431.1:c.121+54T>G | NP_005422.1:n.121+54T>G | |
NM_005431.2:c.121+54T>G MANE Select | NP_005422.1:n.121+54T>G |