HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15897611T>A , CM000681.2:g.15897611T>A | GRCh38 |
NC_000019.9:g.16008421T>A , CM000681.1:g.16008421T>A | GRCh37 |
NC_000019.8:g.15869421T>A | NCBI36 |
NG_007971.2:g.5464A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221700.11:c.1A>T MANE Select | ENSP00000221700.3:p.Met1Leu | |
ENST00000011989.11:c.1A>T | ENSP00000011989.8:p.Met1Leu | |
ENST00000221700.10:c.1A>T | ENSP00000221700.3:p.Met1Leu | |
ENST00000392846.7:n.49+415A>T | ||
ENST00000586927.2:c.1A>T | ENSP00000465514.1:p.Met1Leu | |
ENST00000587671.2:c.1A>T | ENSP00000467443.2:p.Met1Leu | |
ENST00000608168.1:n.54A>T | ||
NM_001082.4:c.1A>T | NP_001073.3:p.Met1Leu | |
NM_001082.5:c.1A>T MANE Select | NP_001073.3:p.Met1Leu |