HGVS | Genome Assembly |
---|---|
NC_000016.10:g.84145453C>G , CM000678.2:g.84145453C>G | GRCh38 |
NC_000016.9:g.84179058C>G , CM000678.1:g.84179058C>G | GRCh37 |
NC_000016.8:g.82736559C>G | NCBI36 |
NG_021174.1:g.5194C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378553.10:c.13C>G MANE Select | ENSP00000367815.5:p.Pro5Ala | |
ENST00000378553.9:c.13C>G | ENSP00000367815.5:p.Pro5Ala | |
ENST00000563093.5:c.13C>G | ENSP00000457373.1:p.Pro5Ala | |
ENST00000567918.5:c.13C>G | ENSP00000455154.1:p.Pro5Ala | |
ENST00000570298.5:n.167C>G | ||
NM_178452.4:c.13C>G | NP_848547.4:p.Pro5Ala | |
XM_006721129.1:c.13C>G | XP_006721192.1:p.Pro5Ala | |
XM_011522850.1:c.13C>G | XP_011521152.1:p.Pro5Ala | |
XM_011522851.1:c.13C>G | XP_011521153.1:p.Pro5Ala | |
XM_011522852.1:c.13C>G | XP_011521154.1:p.Pro5Ala | |
XM_011522853.1:c.13C>G | XP_011521155.1:p.Pro5Ala | |
XM_011522854.1:c.13C>G | XP_011521156.1:p.Pro5Ala | |
XM_011522855.1:c.13C>G | XP_011521157.1:p.Pro5Ala | |
XM_011522856.1:c.-563C>G | XP_011521158.1:n.-563C>G | |
XM_011522857.1:c.13C>G | XP_011521159.1:p.Pro5Ala | |
XM_011522858.1:c.13C>G | XP_011521160.1:p.Pro5Ala | |
NM_178452.5:c.13C>G | NP_848547.4:p.Pro5Ala | |
XM_006721129.3:c.13C>G | XP_006721192.1:p.Pro5Ala | |
XM_011522853.3:c.13C>G | XP_011521155.1:p.Pro5Ala | |
XM_011522854.3:c.13C>G | XP_011521156.1:p.Pro5Ala | |
XM_011522855.3:c.13C>G | XP_011521157.1:p.Pro5Ala | |
XM_011522857.3:c.13C>G | XP_011521159.1:p.Pro5Ala | |
XM_011522858.3:c.13C>G | XP_011521160.1:p.Pro5Ala | |
XM_017022918.2:c.13C>G | XP_016878407.1:p.Pro5Ala | |
XM_017022919.1:c.-563C>G | XP_016878408.1:n.-563C>G | |
XR_001751829.2:n.187C>G | ||
XR_001751830.2:n.187C>G | ||
XR_001751831.2:n.187C>G | ||
XR_001751832.1:n.182C>G | ||
NM_178452.6:c.13C>G MANE Select | NP_848547.4:p.Pro5Ala |