Linked Data
ClinVar Variation Id:
1263928
ClinVar RCV Id:
RCV001674922
dbSNP Id:
rs4311
gnomAD v2:
17-61560763-T-C
gnomAD v3:
17-63483402-T-C
gnomAD v4:
17-63483402-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63483402T>C , CM000679.2:g.63483402T>C | GRCh38 |
| NC_000017.10:g.61560763T>C , CM000679.1:g.61560763T>C | GRCh37 |
| NC_000017.9:g.58914495T>C | NCBI36 |
| NG_011648.1:g.11330T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290866.10:c.1488-58T>C MANE Select | ENSP00000290866.4:n.1488-58T>C | |
| ENST00000290866.9:c.1488-58T>C | ENSP00000290866.4:n.1488-58T>C | |
| ENST00000428043.5:c.1488-58T>C | ENSP00000397593.2:n.1488-58T>C | |
| ENST00000582678.5:c.*887-58T>C | ENSP00000462995.1:n.*887-58T>C | |
| ENST00000584529.5:n.1377-58T>C | ||
| NM_000789.3:c.1488-58T>C | NP_000780.1:n.1488-58T>C | |
| XM_005257110.1:c.939-58T>C | XP_005257167.1:n.939-58T>C | |
| NM_000789.4:c.1488-58T>C MANE Select | NP_000780.1:n.1488-58T>C | |
| NM_001382700.1:c.921-58T>C | NP_001369629.1:n.921-58T>C | |
| NM_001382701.1:c.636-58T>C | NP_001369630.1:n.636-58T>C |