Linked Data
dbSNP Id:
rs777360673
ExAC:
10:69926283 A / G
gnomAD v2:
10-69926283-A-G
gnomAD v4:
10-68166526-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68166526A>G , CM000672.2:g.68166526A>G | GRCh38 |
| NC_000010.10:g.69926283A>G , CM000672.1:g.69926283A>G | GRCh37 |
| NC_000010.9:g.69596289A>G | NCBI36 |
| NG_032118.1:g.65410A>G , LRG_410:g.65410A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.1008A>G | ENSP00000346369.2:p.Ala336= | |
| ENST00000373675.4:c.1833A>G | ENSP00000362779.4:p.Ala611= | |
| ENST00000540630.6:c.1887A>G | ENSP00000441668.3:p.Ala629= | |
| ENST00000613327.5:c.1833A>G | ENSP00000480757.2:p.Ala611= | |
| ENST00000687572.1:c.711A>G | ENSP00000510427.1:p.Ala237= | |
| ENST00000688812.1:c.1809A>G | ENSP00000510658.1:p.Ala603= | |
| ENST00000690544.1:c.*1104A>G | ENSP00000508989.1:n.*1104A>G | |
| ENST00000358913.10:c.1833A>G MANE Select | ENSP00000351790.5:p.Ala611= | |
| ENST00000354393.6:c.1008A>G | ENSP00000346369.2:p.Ala336= | |
| ENST00000358913.9:c.1833A>G | ENSP00000351790.5:p.Ala611= | |
| ENST00000540630.5:c.1833A>G | ENSP00000441668.2:p.Ala611= | |
| ENST00000613327.4:c.951A>G | ENSP00000480757.1:p.Ala317= | |
| NM_001256267.1:c.1833A>G | NP_001243196.1:p.Ala611= | |
| NM_001256268.1:c.951A>G | NP_001243197.1:p.Ala317= | |
| NM_032578.3:c.1833A>G , LRG_410t1:c.1833A>G | NP_115967.2:p.Ala611= | |
| NR_045662.3:n.1260A>G | ||
| NR_045663.3:n.2101A>G | ||
| XM_006718043.2:c.1887A>G | XP_006718106.1:p.Ala629= | |
| XM_011540292.1:c.1863A>G | XP_011538594.1:p.Ala621= | |
| XM_017016833.1:c.1911A>G | XP_016872322.1:p.Ala637= | |
| XM_017016834.2:c.1833A>G | XP_016872323.1:p.Ala611= | |
| XM_024448236.1:c.711A>G | XP_024304004.1:p.Ala237= | |
| NR_045662.4:n.1370A>G | ||
| NR_045663.4:n.2046A>G | ||
| NM_001256267.2:c.1833A>G | NP_001243196.1:p.Ala611= | |
| NM_001256268.2:c.951A>G | NP_001243197.1:p.Ala317= | |
| NM_032578.4:c.1833A>G MANE Select | NP_115967.2:p.Ala611= |