Linked Data
ClinVar Variation Id:
389683
ClinVar RCV Id:
RCV000978388
dbSNP Id:
rs148654550
ExAC:
5:90159569 T / C
gnomAD v2:
5-90159569-T-C
gnomAD v3:
5-90863752-T-C
gnomAD v4:
5-90863752-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90863752T>C , CM000667.2:g.90863752T>C | GRCh38 |
| NC_000005.9:g.90159569T>C , CM000667.1:g.90159569T>C | GRCh37 |
| NC_000005.8:g.90195325T>C | NCBI36 |
| NG_007083.1:g.309953T>C | |
| NG_007083.2:g.339409T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.17756-5T>C MANE Select | ENSP00000384582.2:n.17756-5T>C | |
| ENST00000425867.3:c.6710-5T>C | ENSP00000392618.3:n.6710-5T>C | |
| ENST00000638510.1:n.5023-5T>C | ||
| ENST00000638990.1:c.968-5T>C | ||
| ENST00000639431.1:c.266-121592T>C | ENSP00000491057.1:n.266-121592T>C | |
| ENST00000640407.1:c.4205-5T>C | ENSP00000491425.1:n.4205-5T>C | |
| ENST00000405460.6:c.17756-5T>C | ENSP00000384582.2:n.17756-5T>C | |
| ENST00000425867.2:c.4739-5T>C | ENSP00000392618.2:n.4739-5T>C | |
| ENST00000503852.1:n.304-5T>C | ||
| NM_032119.3:c.17756-5T>C | NP_115495.3:n.17756-5T>C | |
| NR_003149.1:n.17769-5T>C | ||
| XM_011543675.1:c.17753-5T>C | XP_011541977.1:n.17753-5T>C | |
| XM_011543676.1:c.17675-5T>C | XP_011541978.1:n.17675-5T>C | |
| XM_011543677.1:c.15059-5T>C | XP_011541979.1:n.15059-5T>C | |
| NM_032119.4:c.17756-5T>C MANE Select | NP_115495.3:n.17756-5T>C | |
| XM_017009963.2:c.17777-5T>C | XP_016865452.1:n.17777-5T>C | |
| XM_017009964.2:c.17774-5T>C | XP_016865453.1:n.17774-5T>C | |
| XM_017009965.1:c.17774-5T>C | XP_016865454.1:n.17774-5T>C | |
| XM_017009966.2:c.17696-5T>C | XP_016865455.1:n.17696-5T>C | |
| XM_017009967.1:c.17681-5T>C | XP_016865456.1:n.17681-5T>C | |
| XM_017009968.2:c.17597-5T>C | XP_016865457.1:n.17597-5T>C | |
| XM_017009969.2:c.17777-5T>C | XP_016865458.1:n.17777-5T>C | |
| XM_017009972.1:c.10895-5T>C | XP_016865461.1:n.10895-5T>C | |
| XM_017009973.1:c.10874-5T>C | XP_016865462.1:n.10874-5T>C | |
| NR_003149.2:n.17772-5T>C |