HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47733653C>G , CM000679.2:g.47733653C>G | GRCh38 |
NC_000017.10:g.45811019C>G , CM000679.1:g.45811019C>G | GRCh37 |
NC_000017.9:g.43166018C>G | NCBI36 |
NG_012166.1:g.5410C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000177694.2:c.199C>G MANE Select | ENSP00000177694.1:p.Pro67Ala | |
ENST00000177694.1:c.199C>G | ENSP00000177694.1:p.Pro67Ala | |
ENST00000581328.1:n.229C>G | ||
NM_013351.1:c.199C>G | NP_037483.1:p.Pro67Ala | |
XM_011524698.1:c.199C>G | XP_011523000.1:p.Pro67Ala | |
NM_013351.2:c.199C>G MANE Select | NP_037483.1:p.Pro67Ala |