HGVS | Genome Assembly |
---|---|
NC_000015.10:g.64162896A>C , CM000677.2:g.64162896A>C | GRCh38 |
NC_000015.9:g.64455095A>C , CM000677.1:g.64455095A>C | GRCh37 |
NC_000015.8:g.62242148A>C | NCBI36 |
NG_012979.1:g.5260T>G , LRG_10:g.5260T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000300026.4:c.91T>G MANE Select | ENSP00000300026.4:p.Ser31Ala | |
ENST00000561048.2:n.124T>G | ||
ENST00000680158.1:c.91T>G | ENSP00000504873.1:p.Ser31Ala | |
ENST00000681397.1:c.91T>G | ENSP00000506584.1:p.Ser31Ala | |
ENST00000681658.1:c.30+61T>G | ENSP00000505431.1:n.30+61T>G | |
ENST00000300026.3:c.91T>G | ENSP00000300026.3:p.Ser31Ala | |
ENST00000558492.1:n.111T>G | ||
ENST00000561048.1:n.126T>G | ||
NM_000942.4:c.91T>G , LRG_10t1:c.91T>G | NP_000933.1:p.Ser31Ala | |
NM_000942.5:c.91T>G MANE Select | NP_000933.1:p.Ser31Ala |