HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152660730A>C , CM000669.2:g.152660730A>C | GRCh38 |
NC_000007.13:g.152357815A>C , CM000669.1:g.152357815A>C | GRCh37 |
NC_000007.12:g.151988748A>C | NCBI36 |
NG_027988.1:g.20436T>G | |
NG_027988.2:g.20436T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698506.1:c.-47-11367T>G | ENSP00000513758.1:n.-47-11367T>G | |
ENST00000698507.1:n.160T>G | ||
ENST00000359321.2:c.92T>G MANE Select | ENSP00000352271.1:p.Leu31Arg | |
ENST00000359321.1:c.92T>G | ENSP00000352271.1:p.Leu31Arg | |
ENST00000495707.1:n.114T>G | ||
NM_005431.1:c.92T>G | NP_005422.1:p.Leu31Arg | |
NM_005431.2:c.92T>G MANE Select | NP_005422.1:p.Leu31Arg |