HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152660742A>G , CM000669.2:g.152660742A>G | GRCh38 |
NC_000007.13:g.152357827A>G , CM000669.1:g.152357827A>G | GRCh37 |
NC_000007.12:g.151988760A>G | NCBI36 |
NG_027988.1:g.20424T>C | |
NG_027988.2:g.20424T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698506.1:c.-47-11379T>C | ENSP00000513758.1:n.-47-11379T>C | |
ENST00000698507.1:n.148T>C | ||
ENST00000359321.2:c.80T>C MANE Select | ENSP00000352271.1:p.Ile27Thr | |
ENST00000359321.1:c.80T>C | ENSP00000352271.1:p.Ile27Thr | |
ENST00000495707.1:n.102T>C | ||
NM_005431.1:c.80T>C | NP_005422.1:p.Ile27Thr | |
NM_005431.2:c.80T>C MANE Select | NP_005422.1:p.Ile27Thr |