Linked Data
ClinVar Variation Id:
2649370
ClinVar RCV Id:
RCV003421850
dbSNP Id:
rs202137137
ExAC:
19:13246007 C / T
gnomAD v2:
19-13246007-C-T
gnomAD v3:
19-13135193-C-T
gnomAD v4:
19-13135193-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13135193C>T , CM000681.2:g.13135193C>T | GRCh38 |
| NC_000019.9:g.13246007C>T , CM000681.1:g.13246007C>T | GRCh37 |
| NC_000019.8:g.13107007C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586171.3:c.-8-7C>T | ENSP00000467120.2:n.-8-7C>T | |
| ENST00000700232.1:c.-8-7C>T | ENSP00000514870.1:n.-8-7C>T | |
| ENST00000292431.5:c.-8-7C>T MANE Select | ENSP00000292431.3:n.-8-7C>T | |
| ENST00000586171.2:c.-8-7C>T | ENSP00000467120.1:n.-8-7C>T | |
| ENST00000292431.4:c.-8-7C>T | ENSP00000292431.3:n.-8-7C>T | |
| ENST00000586171.1:c.-8-7C>T | ENSP00000467120.1:n.-8-7C>T | |
| NM_052876.3:c.-8-7C>T | NP_443108.1:n.-8-7C>T | |
| XM_005259721.2:c.-8-7C>T | XP_005259778.1:n.-8-7C>T | |
| XM_005259721.3:c.-8-7C>T | XP_005259778.1:n.-8-7C>T | |
| NM_052876.4:c.-8-7C>T MANE Select | NP_443108.1:n.-8-7C>T |