Linked Data
ClinVar Variation Id:
46275
dbSNP Id:
rs371981035
ExAC:
5:90106048 A / G
gnomAD v2:
5-90106048-A-G
gnomAD v3:
5-90810231-A-G
gnomAD v4:
5-90810231-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90810231A>G , CM000667.2:g.90810231A>G | GRCh38 |
| NC_000005.9:g.90106048A>G , CM000667.1:g.90106048A>G | GRCh37 |
| NC_000005.8:g.90141804A>G | NCBI36 |
| NG_007083.1:g.256432A>G | |
| NG_007083.2:g.285888A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.14973-2A>G MANE Select | ENSP00000384582.2:n.14973-2A>G | |
| ENST00000425867.3:c.3927-2A>G | ENSP00000392618.3:n.3927-2A>G | |
| ENST00000638510.1:n.2240-2A>G | ||
| ENST00000638585.1:n.428-2A>G | ||
| ENST00000639431.1:c.265+134022A>G | ENSP00000491057.1:n.265+134022A>G | |
| ENST00000640407.1:c.1383-2A>G | ENSP00000491425.1:n.1383-2A>G | |
| ENST00000405460.6:c.14973-2A>G | ENSP00000384582.2:n.14973-2A>G | |
| ENST00000425867.2:c.1956-2A>G | ENSP00000392618.2:n.1956-2A>G | |
| NM_032119.3:c.14973-2A>G | NP_115495.3:n.14973-2A>G | |
| NR_003149.1:n.14986-2A>G | ||
| XM_011543675.1:c.14970-2A>G | XP_011541977.1:n.14970-2A>G | |
| XM_011543676.1:c.14892-2A>G | XP_011541978.1:n.14892-2A>G | |
| XM_011543677.1:c.12276-2A>G | XP_011541979.1:n.12276-2A>G | |
| XM_011543678.1:c.14973-7A>G | XP_011541980.1:n.14973-7A>G | |
| NM_032119.4:c.14973-2A>G MANE Select | NP_115495.3:n.14973-2A>G | |
| XM_017009963.2:c.14994-2A>G | XP_016865452.1:n.14994-2A>G | |
| XM_017009964.2:c.14991-2A>G | XP_016865453.1:n.14991-2A>G | |
| XM_017009965.1:c.14991-2A>G | XP_016865454.1:n.14991-2A>G | |
| XM_017009966.2:c.14913-2A>G | XP_016865455.1:n.14913-2A>G | |
| XM_017009967.1:c.14898-2A>G | XP_016865456.1:n.14898-2A>G | |
| XM_017009968.2:c.14819-7A>G | XP_016865457.1:n.14819-7A>G | |
| XM_017009969.2:c.14994-2A>G | XP_016865458.1:n.14994-2A>G | |
| XM_017009970.2:c.14994-7A>G | XP_016865459.1:n.14994-7A>G | |
| XM_017009971.2:c.14819-2A>G | XP_016865460.1:n.14819-2A>G | |
| XM_017009972.1:c.8112-2A>G | XP_016865461.1:n.8112-2A>G | |
| XM_017009973.1:c.8091-2A>G | XP_016865462.1:n.8091-2A>G | |
| NR_003149.2:n.14989-2A>G |