Linked Data
ClinVar Variation Id:
2605925
ClinVar RCV Id:
RCV004344580
dbSNP Id:
rs767926992
ExAC:
2:17698926 C / A
gnomAD v2:
2-17698926-C-A
gnomAD v4:
2-17517659-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.17517659C>A , CM000664.2:g.17517659C>A | GRCh38 |
| NC_000002.11:g.17698926C>A , CM000664.1:g.17698926C>A | GRCh37 |
| NC_000002.10:g.17562407C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399080.3:c.757G>T MANE Select | ENSP00000382030.2:p.Asp253Tyr | |
| ENST00000399080.2:c.757G>T | ENSP00000382030.2:p.Asp253Tyr | |
| NM_001099218.2:c.757G>T | NP_001092688.1:p.Asp253Tyr | |
| XM_005262625.1:c.730G>T | XP_005262682.1:p.Asp244Tyr | |
| XM_011533084.1:c.757G>T | XP_011531386.1:p.Asp253Tyr | |
| NM_001321233.1:c.730G>T | NP_001308162.1:p.Asp244Tyr | |
| XM_011533084.2:c.757G>T | XP_011531386.1:p.Asp253Tyr | |
| XM_024453116.1:c.730G>T | XP_024308884.1:p.Asp244Tyr | |
| XM_024453117.1:c.730G>T | XP_024308885.1:p.Asp244Tyr | |
| XM_024453118.1:c.730G>T | XP_024308886.1:p.Asp244Tyr | |
| NM_001099218.3:c.757G>T MANE Select | NP_001092688.1:p.Asp253Tyr |