HGVS | Genome Assembly |
---|---|
NC_000001.11:g.56500848A>G , CM000663.2:g.56500848A>G | GRCh38 |
NC_000001.10:g.56966520A>G , CM000663.1:g.56966520A>G | GRCh37 |
NC_000001.9:g.56739108A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371250.4:c.811-4172T>C MANE Select | ENSP00000360296.3:n.811-4172T>C | |
ENST00000641109.1:c.220-4172T>C | ENSP00000493138.1:n.220-4172T>C | |
ENST00000641494.1:c.65-4172T>C | ||
ENST00000642129.1:c.455-4172T>C | ||
ENST00000371250.3:c.811-4172T>C | ENSP00000360296.3:n.811-4172T>C | |
ENST00000459962.1:n.1797-4172T>C | ||
ENST00000472957.1:n.296-4172T>C | ||
NM_003713.4:c.811-4172T>C | NP_003704.3:n.811-4172T>C | |
NM_003713.5:c.811-4172T>C MANE Select | NP_003704.3:n.811-4172T>C |