HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107695995T>G , CM000669.2:g.107695995T>G | GRCh38 |
NC_000007.13:g.107336440T>G , CM000669.1:g.107336440T>G | GRCh37 |
NC_000007.12:g.107123676T>G | NCBI36 |
NG_008489.1:g.40361T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.1500T>G MANE Select | ENSP00000494017.1:p.Ala500= | |
ENST00000644846.1:c.211T>G | ||
ENST00000265715.7:c.1500T>G | ENSP00000265715.3:p.Ala500= | |
ENST00000477350.5:n.347T>G | ||
ENST00000480841.5:n.349T>G | ||
ENST00000497446.5:n.515T>G | ||
NM_000441.1:c.1500T>G | NP_000432.1:p.Ala500= | |
XM_005250425.1:c.1500T>G | XP_005250482.1:p.Ala500= | |
XM_005250425.2:c.1500T>G | XP_005250482.1:p.Ala500= | |
XM_017012318.1:c.1422T>G | XP_016867807.1:p.Ala474= | |
NM_000441.2:c.1500T>G MANE Select | NP_000432.1:p.Ala500= |