Linked Data
ClinVar Variation Id:
158656
ClinVar RCV Id:
RCV001701615
dbSNP Id:
rs7723259
ExAC:
5:90020868 A / C
gnomAD v2:
5-90020868-A-C
gnomAD v3:
5-90725051-A-C
gnomAD v4:
5-90725051-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90725051A>C , CM000667.2:g.90725051A>C | GRCh38 |
| NC_000005.9:g.90020868A>C , CM000667.1:g.90020868A>C | GRCh37 |
| NC_000005.8:g.90056624A>C | NCBI36 |
| NG_007083.1:g.171252A>C | |
| NG_007083.2:g.200708A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.9907-35A>C MANE Select | ENSP00000384582.2:n.9907-35A>C | |
| ENST00000639431.1:c.265+48842A>C | ENSP00000491057.1:n.265+48842A>C | |
| ENST00000640374.1:n.3051-35A>C | ||
| ENST00000640464.1:n.326-35A>C | ||
| ENST00000640779.1:c.4636-35A>C | ||
| ENST00000405460.6:c.9907-35A>C | ENSP00000384582.2:n.9907-35A>C | |
| ENST00000509621.1:c.2604-35A>C | ||
| NM_032119.3:c.9907-35A>C | NP_115495.3:n.9907-35A>C | |
| NR_003149.1:n.9920-35A>C | ||
| XM_011543675.1:c.9904-35A>C | XP_011541977.1:n.9904-35A>C | |
| XM_011543676.1:c.9826-35A>C | XP_011541978.1:n.9826-35A>C | |
| XM_011543677.1:c.7210-35A>C | XP_011541979.1:n.7210-35A>C | |
| XM_011543678.1:c.9907-35A>C | XP_011541980.1:n.9907-35A>C | |
| XM_011543679.1:c.9907-35A>C | XP_011541981.1:n.9907-35A>C | |
| XR_948560.1:n.272-9242T>G | ||
| NM_032119.4:c.9907-35A>C MANE Select | NP_115495.3:n.9907-35A>C | |
| XM_017009963.2:c.9928-35A>C | XP_016865452.1:n.9928-35A>C | |
| XM_017009964.2:c.9925-35A>C | XP_016865453.1:n.9925-35A>C | |
| XM_017009965.1:c.9925-35A>C | XP_016865454.1:n.9925-35A>C | |
| XM_017009966.2:c.9847-35A>C | XP_016865455.1:n.9847-35A>C | |
| XM_017009967.1:c.9832-35A>C | XP_016865456.1:n.9832-35A>C | |
| XM_017009968.2:c.9928-35A>C | XP_016865457.1:n.9928-35A>C | |
| XM_017009969.2:c.9928-35A>C | XP_016865458.1:n.9928-35A>C | |
| XM_017009970.2:c.9928-35A>C | XP_016865459.1:n.9928-35A>C | |
| XM_017009971.2:c.9928-35A>C | XP_016865460.1:n.9928-35A>C | |
| XM_017009972.1:c.3046-35A>C | XP_016865461.1:n.3046-35A>C | |
| XM_017009973.1:c.3025-35A>C | XP_016865462.1:n.3025-35A>C | |
| XM_017009974.2:c.9928-35A>C | XP_016865463.1:n.9928-35A>C | |
| XR_001742802.1:n.2523-9242T>G | ||
| NR_003149.2:n.9923-35A>C |