Linked Data
dbSNP Id:
rs776939893
ExAC:
11:66327769 T / C
gnomAD v2:
11-66327769-T-C
gnomAD v3:
11-66560298-T-C
gnomAD v4:
11-66560298-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560298T>C , CM000673.2:g.66560298T>C | GRCh38 |
| NC_000011.9:g.66327769T>C , CM000673.1:g.66327769T>C | GRCh37 |
| NC_000011.8:g.66084345T>C | NCBI36 |
| NG_013304.2:g.18379T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1664T>C MANE Select | ENSP00000426797.1:p.Val555Ala | |
| ENST00000502692.5:c.1793T>C | ENSP00000422007.1:p.Val598Ala | |
| ENST00000513398.1:c.1664T>C | ENSP00000426797.1:p.Val555Ala | |
| NM_001104.3:c.1664T>C | NP_001095.2:p.Val555Ala | |
| NM_001258371.2:c.1793T>C | NP_001245300.2:p.Val598Ala | |
| NM_001104.4:c.1664T>C MANE Select | NP_001095.2:p.Val555Ala | |
| NM_001258371.3:c.1793T>C | NP_001245300.2:p.Val598Ala |