Linked Data
ClinVar Variation Id:
194572
dbSNP Id:
rs138410949
ExAC:
15:90174856 T / C
gnomAD v2:
15-90174856-T-C
gnomAD v3:
15-89631625-T-C
gnomAD v4:
15-89631625-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89631625T>C , CM000677.2:g.89631625T>C | GRCh38 |
| NC_000015.9:g.90174856T>C , CM000677.1:g.90174856T>C | GRCh37 |
| NC_000015.8:g.87975860T>C | NCBI36 |
| NG_030338.1:g.28827A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696512.1:c.3104A>G | ENSP00000512678.1:p.Gln1035Arg | |
| ENST00000394412.8:c.2981A>G MANE Select | ENSP00000377934.3:p.Gln994Arg | |
| ENST00000677187.1:n.655A>G | ||
| ENST00000394412.7:c.2981A>G | ENSP00000377934.3:p.Gln994Arg | |
| NM_198525.2:c.2981A>G | NP_940927.2:p.Gln994Arg | |
| XM_005254902.2:c.2981A>G | XP_005254959.1:p.Gln994Arg | |
| XM_011521531.1:c.3104A>G | XP_011519833.1:p.Gln1035Arg | |
| XM_011521532.1:c.3101A>G | XP_011519834.1:p.Gln1034Arg | |
| XM_011521533.1:c.3101A>G | XP_011519835.1:p.Gln1034Arg | |
| XM_011521534.1:c.3104A>G | XP_011519836.1:p.Gln1035Arg | |
| XM_011521535.1:c.3104A>G | XP_011519837.1:p.Gln1035Arg | |
| XM_011521536.1:c.3104A>G | XP_011519838.1:p.Gln1035Arg | |
| XM_011521531.2:c.3104A>G | XP_011519833.1:p.Gln1035Arg | |
| NM_198525.3:c.2981A>G MANE Select | NP_940927.2:p.Gln994Arg |