Linked Data
ClinVar Variation Id:
2139838
ClinVar RCV Id:
RCV003066697
dbSNP Id:
rs552786756
ExAC:
5:127640791 T / C
gnomAD v2:
5-127640791-T-C
gnomAD v3:
5-128305099-T-C
gnomAD v4:
5-128305099-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128305099T>C , CM000667.2:g.128305099T>C | GRCh38 |
| NC_000005.9:g.127640791T>C , CM000667.1:g.127640791T>C | GRCh37 |
| NC_000005.8:g.127668690T>C | NCBI36 |
| NG_008750.1:g.237945A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2459-17A>G | ||
| ENST00000703785.1:n.2378-17A>G | ||
| ENST00000262464.9:c.5675-17A>G MANE Select | ENSP00000262464.4:n.5675-17A>G | |
| ENST00000262464.8:c.5675-17A>G | ENSP00000262464.4:n.5675-17A>G | |
| ENST00000508053.5:c.5675-17A>G | ENSP00000424571.1:n.5675-17A>G | |
| ENST00000619499.4:c.5672-17A>G | ENSP00000482132.1:n.5672-17A>G | |
| NM_001999.3:c.5675-17A>G | NP_001990.2:n.5675-17A>G | |
| XM_017009228.2:c.5522-17A>G | XP_016864717.1:n.5522-17A>G | |
| NM_001999.4:c.5675-17A>G MANE Select | NP_001990.2:n.5675-17A>G |