HGVS | Genome Assembly |
---|---|
NC_000007.14:g.93101521A>T , CM000669.2:g.93101521A>T | GRCh38 |
NC_000007.13:g.92730834A>T , CM000669.1:g.92730834A>T | GRCh37 |
NC_000007.12:g.92568770A>T | NCBI36 |
NG_023419.1:g.21503T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379958.3:c.4577T>A MANE Select | ENSP00000369292.2:p.Leu1526His | |
ENST00000379958.2:c.4577T>A | ENSP00000369292.2:p.Leu1526His | |
ENST00000620985.4:c.4577T>A | ENSP00000484636.1:p.Leu1526His | |
NM_001193307.1:c.4577T>A | NP_001180236.1:p.Leu1526His | |
NM_017654.3:c.4577T>A | NP_060124.2:p.Leu1526His | |
NM_017654.4:c.4577T>A MANE Select | NP_060124.2:p.Leu1526His | |
NM_001193307.2:c.4577T>A | NP_001180236.1:p.Leu1526His |