HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339426G>T , CM000669.2:g.17339426G>T | GRCh38 |
NC_000007.13:g.17379050G>T , CM000669.1:g.17379050G>T | GRCh37 |
NC_000007.12:g.17345575G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1601G>T MANE Select | ENSP00000242057.4:p.Ser534Ile | |
ENST00000637807.1:c.1571G>T | ENSP00000490530.1:p.Ser524Ile | |
ENST00000642825.1:c.1556G>T | ENSP00000495987.1:p.Ser519Ile | |
ENST00000242057.8:c.1601G>T | ENSP00000242057.4:p.Ser534Ile | |
ENST00000463496.1:c.1601G>T | ENSP00000436466.1:p.Ser534Ile | |
ENST00000492120.1:n.583G>T | ||
NM_001621.4:c.1601G>T | NP_001612.1:p.Ser534Ile | |
NM_001621.5:c.1601G>T MANE Select | NP_001612.1:p.Ser534Ile |