Linked Data
ClinVar Variation Id:
1060892
dbSNP Id:
rs368691880
ExAC:
9:35093097 C / G
gnomAD v2:
9-35093097-C-G
gnomAD v3:
9-35093100-C-G
gnomAD v4:
9-35093100-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35093100C>G , CM000671.2:g.35093100C>G | GRCh38 |
| NC_000009.11:g.35093097C>G , CM000671.1:g.35093097C>G | GRCh37 |
| NC_000009.10:g.35083097C>G | NCBI36 |
| NG_031990.1:g.8502G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361778.7:c.1049G>C | ENSP00000354678.2:p.Gly350Ala | |
| ENST00000700254.1:c.1049G>C | ENSP00000514892.1:p.Gly350Ala | |
| ENST00000700255.1:c.*229G>C | ENSP00000514893.1:n.*229G>C | |
| ENST00000700256.1:n.1081G>C | ||
| ENST00000700257.1:c.1049G>C | ENSP00000514894.1:p.Gly350Ala | |
| ENST00000700259.1:c.1049G>C | ENSP00000514895.1:p.Gly350Ala | |
| ENST00000700260.1:c.939+321G>C | ENSP00000514896.1:n.939+321G>C | |
| ENST00000700261.1:c.1049G>C | ENSP00000514897.1:p.Gly350Ala | |
| ENST00000700262.1:c.1049G>C | ENSP00000514898.1:p.Gly350Ala | |
| ENST00000700263.1:c.925G>C | ENSP00000514899.1:n.925G>C | |
| ENST00000700264.1:c.1049G>C | ENSP00000514900.1:p.Gly350Ala | |
| ENST00000378617.4:c.1049G>C MANE Select | ENSP00000367880.3:p.Gly350Ala | |
| ENST00000298004.9:c.1049G>C | ENSP00000298004.5:p.Gly350Ala | |
| ENST00000361778.6:c.1049G>C | ENSP00000354678.2:p.Gly350Ala | |
| ENST00000378617.3:c.1049G>C | ENSP00000367880.3:p.Gly350Ala | |
| ENST00000465745.6:n.1788G>C | ||
| ENST00000474436.1:n.2245G>C | ||
| NM_001201484.1:c.1049G>C | NP_001188413.1:p.Gly350Ala | |
| NM_032634.3:c.1049G>C | NP_116023.2:p.Gly350Ala | |
| NM_152850.3:c.1049G>C | NP_690577.2:p.Gly350Ala | |
| XM_005251619.2:c.1049G>C | XP_005251676.1:p.Gly350Ala | |
| XM_011518056.1:c.1049G>C | XP_011516358.1:p.Gly350Ala | |
| XR_242515.1:n.1070G>C | ||
| XM_005251619.3:c.1049G>C | XP_005251676.1:p.Gly350Ala | |
| XM_017015222.2:c.1049G>C | XP_016870711.1:p.Gly350Ala | |
| XM_017015223.1:c.1049G>C | XP_016870712.1:p.Gly350Ala | |
| XM_017015224.1:c.1049G>C | XP_016870713.1:p.Gly350Ala | |
| XR_001746390.1:n.1472G>C | ||
| XR_001746391.2:n.1070G>C | ||
| XR_242515.3:n.1070G>C | ||
| NM_032634.4:c.1049G>C MANE Select | NP_116023.2:p.Gly350Ala | |
| NM_001201484.2:c.1049G>C | NP_001188413.1:p.Gly350Ala | |
| NM_152850.4:c.1049G>C | NP_690577.2:p.Gly350Ala |