Linked Data
ClinVar Variation Id:
1264863
ClinVar RCV Id:
RCV001677108
dbSNP Id:
rs2290349
ExAC:
10:4881935 A / G
gnomAD v2:
10-4881935-A-G
gnomAD v3:
10-4839743-A-G
gnomAD v4:
10-4839743-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.4839743A>G , CM000672.2:g.4839743A>G | GRCh38 |
| NC_000010.10:g.4881935A>G , CM000672.1:g.4881935A>G | GRCh37 |
| NC_000010.9:g.4871935A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298375.12:c.597A>G MANE Select | ENSP00000298375.7:p.Pro199= | |
| ENST00000298375.11:c.597A>G | ENSP00000298375.7:p.Pro199= | |
| ENST00000334019.4:c.582+2162A>G | ENSP00000335034.4:n.582+2162A>G | |
| ENST00000345253.9:c.460-2678A>G | ENSP00000335603.5:n.460-2678A>G | |
| ENST00000441590.5:n.370+2162A>G | ||
| ENST00000462718.7:n.610A>G | ||
| ENST00000463345.5:c.597A>G | ENSP00000436794.1:p.Pro199= | |
| ENST00000474119.5:c.285A>G | ENSP00000434437.1:p.Pro95= | |
| ENST00000525281.5:n.535+2162A>G | ||
| ENST00000525572.1:c.350A>G | ||
| ENST00000532248.5:c.582+2162A>G | ENSP00000432947.1:n.582+2162A>G | |
| NM_001040177.2:c.597A>G | NP_001035267.1:p.Pro199= | |
| NM_001271021.1:c.582+2162A>G | NP_001257950.1:n.582+2162A>G | |
| NM_001271025.1:c.460-2678A>G | NP_001257954.1:n.460-2678A>G | |
| NR_073125.1:n.745A>G | ||
| NR_073126.1:n.659A>G | ||
| NR_073127.1:n.730+2162A>G | ||
| XM_006717514.2:c.465+2162A>G | XP_006717577.1:n.465+2162A>G | |
| XM_011519715.1:c.660A>G | XP_011518017.1:p.Pro220= | |
| XM_011519716.1:c.660A>G | XP_011518018.1:p.Pro220= | |
| XM_011519717.1:c.543A>G | XP_011518019.1:p.Pro181= | |
| XM_011519718.1:c.660A>G | XP_011518020.1:p.Pro220= | |
| XM_011519719.1:c.660A>G | XP_011518021.1:p.Pro220= | |
| XM_011519720.1:c.660A>G | XP_011518022.1:p.Pro220= | |
| XM_011519721.1:c.660A>G | XP_011518023.1:p.Pro220= | |
| XM_011519722.1:c.660A>G | XP_011518024.1:p.Pro220= | |
| XM_011519723.1:c.660A>G | XP_011518025.1:p.Pro220= | |
| XM_011519724.1:c.645+2162A>G | XP_011518026.1:n.645+2162A>G | |
| XM_011519725.1:c.660A>G | XP_011518027.1:p.Pro220= | |
| XM_011519726.1:c.523-2678A>G | XP_011518028.1:n.523-2678A>G | |
| XM_011519727.1:c.465+2162A>G | XP_011518029.1:n.465+2162A>G | |
| XM_011519728.1:c.285A>G | XP_011518030.1:p.Pro95= | |
| XM_011519729.1:c.646-2042A>G | XP_011518031.1:n.646-2042A>G | |
| XR_930518.1:n.1032A>G | ||
| XR_930519.1:n.1033A>G | ||
| XR_930520.1:n.1032A>G | ||
| XM_011519715.2:c.660A>G | XP_011518017.1:p.Pro220= | |
| XM_011519718.2:c.660A>G | XP_011518020.1:p.Pro220= | |
| XM_011519719.2:c.660A>G | XP_011518021.1:p.Pro220= | |
| XM_011519720.2:c.660A>G | XP_011518022.1:p.Pro220= | |
| XM_011519722.2:c.660A>G | XP_011518024.1:p.Pro220= | |
| XM_011519724.2:c.645+2162A>G | XP_011518026.1:n.645+2162A>G | |
| XM_011519725.2:c.660A>G | XP_011518027.1:p.Pro220= | |
| XM_017016743.1:c.660A>G | XP_016872232.1:p.Pro220= | |
| XM_017016744.1:c.660A>G | XP_016872233.1:p.Pro220= | |
| XM_017016745.1:c.285A>G | XP_016872234.1:p.Pro95= | |
| XM_024448224.1:c.480A>G | XP_024303992.1:p.Pro160= | |
| XM_024448225.1:c.597A>G | XP_024303993.1:p.Pro199= | |
| XM_024448226.1:c.523-2678A>G | XP_024303994.1:n.523-2678A>G | |
| XR_001747220.1:n.1042A>G | ||
| XR_001747221.1:n.712A>G | ||
| XR_001747222.1:n.1042A>G | ||
| XR_001747223.1:n.1743+2162A>G | ||
| XR_002957024.1:n.1025-2042A>G | ||
| XR_930518.2:n.1041A>G | ||
| XR_930519.2:n.1042A>G | ||
| XR_930520.2:n.1041A>G | ||
| NM_001040177.3:c.597A>G MANE Select | NP_001035267.1:p.Pro199= | |
| NM_001271021.2:c.582+2162A>G | NP_001257950.1:n.582+2162A>G | |
| NM_001271025.2:c.460-2678A>G | NP_001257954.1:n.460-2678A>G | |
| NR_073125.2:n.715A>G | ||
| NR_073127.2:n.700+2162A>G |