HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271434T>G , CM000668.2:g.31271434T>G | GRCh38 |
NC_000006.11:g.31239211T>G , CM000668.1:g.31239211T>G | GRCh37 |
NC_000006.10:g.31347190T>G | NCBI36 |
NG_029422.2:g.5698A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.344-86A>C MANE Select | ENSP00000365402.5:n.344-86A>C | |
ENST00000376228.9:c.344-86A>C | ENSP00000365402.5:n.344-86A>C | |
ENST00000376237.8:c.344-103A>C | ENSP00000365412.4:n.344-103A>C | |
ENST00000383329.7:c.344-86A>C | ENSP00000372819.3:n.344-86A>C | |
ENST00000415537.1:c.342-86A>C | ||
ENST00000484378.1:n.527A>C | ||
ENST00000487245.5:n.617A>C | ||
ENST00000495835.1:n.533-86A>C | ||
NM_002117.5:c.344-86A>C | NP_002108.4:n.344-86A>C | |
NM_002117.6:c.344-86A>C MANE Select | NP_002108.4:n.344-86A>C |