Linked Data
ClinVar Variation Id:
371149
ClinVar RCV Id:
RCV000409478
dbSNP Id:
rs1057517044
gnomAD v4:
22-50627054-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50627054T>C , CM000684.2:g.50627054T>C | GRCh38 |
| NC_000022.10:g.51065482T>C , CM000684.1:g.51065482T>C | GRCh37 |
| NC_000022.9:g.49412348T>C | NCBI36 |
| NG_009260.2:g.6126A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216124.10:c.466-2A>G MANE Select | ENSP00000216124.5:n.466-2A>G | |
| ENST00000216124.9:c.466-2A>G | ENSP00000216124.5:n.466-2A>G | |
| ENST00000356098.9:c.466-2A>G | ENSP00000348406.5:n.466-2A>G | |
| ENST00000395619.3:c.466-2A>G | ENSP00000378981.3:n.466-2A>G | |
| ENST00000395621.7:c.466-2A>G | ENSP00000378983.3:n.466-2A>G | |
| ENST00000453344.6:c.208-2A>G | ENSP00000412542.2:n.208-2A>G | |
| ENST00000551731.1:n.968A>G | ||
| NM_000487.5:c.466-2A>G | NP_000478.3:n.466-2A>G | |
| NM_001085425.2:c.466-2A>G | NP_001078894.2:n.466-2A>G | |
| NM_001085426.2:c.466-2A>G | NP_001078895.2:n.466-2A>G | |
| NM_001085427.2:c.466-2A>G | NP_001078896.2:n.466-2A>G | |
| NM_001085428.2:c.208-2A>G | NP_001078897.1:n.208-2A>G | |
| XM_011530690.1:c.208-2A>G | XP_011528992.1:n.208-2A>G | |
| XM_011530691.1:c.466-2A>G | XP_011528993.1:n.466-2A>G | |
| NM_001362782.1:c.208-2A>G | NP_001349711.1:n.208-2A>G | |
| XM_011530691.3:c.466-2A>G | XP_011528993.1:n.466-2A>G | |
| XM_017028800.1:c.466-2A>G | XP_016884289.1:n.466-2A>G | |
| XM_024452241.1:c.466-2A>G | XP_024308009.1:n.466-2A>G | |
| NM_000487.6:c.466-2A>G MANE Select | NP_000478.3:n.466-2A>G | |
| NM_001085425.3:c.466-2A>G | NP_001078894.2:n.466-2A>G | |
| NM_001085426.3:c.466-2A>G | NP_001078895.2:n.466-2A>G | |
| NM_001085427.3:c.466-2A>G | NP_001078896.2:n.466-2A>G | |
| NM_001085428.3:c.208-2A>G | NP_001078897.1:n.208-2A>G | |
| NM_001362782.2:c.208-2A>G | NP_001349711.1:n.208-2A>G |