Linked Data
ClinVar Variation Id:
440137
dbSNP Id:
rs867092741
gnomAD v4:
16-2091175-C-T
PubMed:
PMID:23300259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2091175C>T , CM000678.2:g.2091175C>T | GRCh38 |
| NC_000016.9:g.2141176C>T , CM000678.1:g.2141176C>T | GRCh37 |
| NC_000016.8:g.2081177C>T | NCBI36 |
| NG_008617.1:g.52046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.11713-1G>A MANE Select | ENSP00000262304.4:n.11713-1G>A | |
| ENST00000262304.8:c.11713-1G>A | ENSP00000262304.4:n.11713-1G>A | |
| ENST00000423118.5:c.11710-1G>A | ENSP00000399501.1:n.11710-1G>A | |
| ENST00000487932.5:c.6275-1G>A | ENSP00000457132.1:n.6275-1G>A | |
| ENST00000561668.5:c.374-1G>A | ||
| ENST00000564313.1:n.234-1G>A | ||
| NM_000296.3:c.11710-1G>A | NP_000287.3:n.11710-1G>A | |
| NM_001009944.2:c.11713-1G>A | NP_001009944.2:n.11713-1G>A | |
| XM_005255370.2:c.8668-1G>A | XP_005255427.1:n.8668-1G>A | |
| XM_011522525.1:c.11791-1G>A | XP_011520827.1:n.11791-1G>A | |
| XM_011522526.1:c.11788-1G>A | XP_011520828.1:n.11788-1G>A | |
| XM_011522527.1:c.11773-1G>A | XP_011520829.1:n.11773-1G>A | |
| XM_011522528.1:c.11767-1G>A | XP_011520830.1:n.11767-1G>A | |
| XM_011522529.1:c.11764-1G>A | XP_011520831.1:n.11764-1G>A | |
| XM_011522530.1:c.11737-1G>A | XP_011520832.1:n.11737-1G>A | |
| XM_011522531.1:c.11719-1G>A | XP_011520833.1:n.11719-1G>A | |
| XM_011522532.1:c.11665-1G>A | XP_011520834.1:n.11665-1G>A | |
| XM_011522533.1:c.11584-1G>A | XP_011520835.1:n.11584-1G>A | |
| XM_011522534.1:c.11527-1G>A | XP_011520836.1:n.11527-1G>A | |
| XM_011522535.1:c.9613-1G>A | XP_011520837.1:n.9613-1G>A | |
| XM_011522537.1:c.8791-1G>A | XP_011520839.1:n.8791-1G>A | |
| XR_932867.1:n.11631-1G>A | ||
| XR_932869.1:n.11378-1G>A | ||
| XM_005255370.3:c.8668-1G>A | XP_005255427.1:n.8668-1G>A | |
| XM_011522528.3:c.11767-1G>A | XP_011520830.1:n.11767-1G>A | |
| XM_011522529.2:c.11764-1G>A | XP_011520831.1:n.11764-1G>A | |
| XM_011522537.2:c.8791-1G>A | XP_011520839.1:n.8791-1G>A | |
| XM_024450298.1:c.11833-1G>A | XP_024306066.1:n.11833-1G>A | |
| XM_024450299.1:c.11761-1G>A | XP_024306067.1:n.11761-1G>A | |
| XM_024450300.1:c.11623-1G>A | XP_024306068.1:n.11623-1G>A | |
| XM_024450301.1:c.9709-1G>A | XP_024306069.1:n.9709-1G>A | |
| NM_000296.4:c.11710-1G>A | NP_000287.4:n.11710-1G>A | |
| NM_001009944.3:c.11713-1G>A MANE Select | NP_001009944.3:n.11713-1G>A |