Linked Data
ClinVar Variation Id:
56119
ClinVar RCV Id:
RCV000049528
dbSNP Id:
rs386833601
PubMed:
PMID:1992472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124411670G>C , CM000672.2:g.124411670G>C | GRCh38 |
| NC_000010.10:g.126100239G>C , CM000672.1:g.126100239G>C | GRCh37 |
| NC_000010.9:g.126090229G>C | NCBI36 |
| NG_008861.1:g.12281C>G , LRG_685:g.12281C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.199+303C>G MANE Select | ENSP00000357838.5:n.199+303C>G | |
| ENST00000368845.5:c.199+303C>G | ENSP00000357838.5:n.199+303C>G | |
| ENST00000476917.5:n.264+303C>G | ||
| ENST00000490096.5:n.435+303C>G | ||
| ENST00000492376.1:n.547+303C>G | ||
| ENST00000539214.5:c.-215-2705C>G | ENSP00000439042.1:n.-215-2705C>G | |
| NM_000274.3:c.199+303C>G , LRG_685t1:c.199+303C>G | NP_000265.1:n.199+303C>G | |
| NM_001171814.1:c.-215-2705C>G | NP_001165285.1:n.-215-2705C>G | |
| XM_006717871.2:c.199+303C>G | XP_006717934.1:n.199+303C>G | |
| XM_011539833.1:c.199+303C>G | XP_011538135.1:n.199+303C>G | |
| XM_011539834.1:c.199+303C>G | XP_011538136.1:n.199+303C>G | |
| NM_001322965.1:c.199+303C>G | NP_001309894.1:n.199+303C>G | |
| NM_001322966.1:c.199+303C>G | NP_001309895.1:n.199+303C>G | |
| NM_001322967.1:c.199+303C>G | NP_001309896.1:n.199+303C>G | |
| NM_001322968.1:c.199+303C>G | NP_001309897.1:n.199+303C>G | |
| NM_001322969.1:c.199+303C>G | NP_001309898.1:n.199+303C>G | |
| NM_001322970.1:c.199+303C>G | NP_001309899.1:n.199+303C>G | |
| NM_001322971.1:c.199+303C>G | NP_001309900.1:n.199+303C>G | |
| NM_001322974.1:c.-515-2705C>G | NP_001309903.1:n.-515-2705C>G | |
| XM_017016279.1:c.-2255+303C>G | XP_016871768.1:n.-2255+303C>G | |
| NM_000274.4:c.199+303C>G MANE Select | NP_000265.1:n.199+303C>G | |
| NM_001322965.2:c.199+303C>G | NP_001309894.1:n.199+303C>G | |
| NM_001322966.2:c.199+303C>G | NP_001309895.1:n.199+303C>G | |
| NM_001322967.2:c.199+303C>G | NP_001309896.1:n.199+303C>G | |
| NM_001322968.2:c.199+303C>G | NP_001309897.1:n.199+303C>G | |
| NM_001322969.2:c.199+303C>G | NP_001309898.1:n.199+303C>G | |
| NM_001322970.2:c.199+303C>G | NP_001309899.1:n.199+303C>G | |
| NM_001322971.2:c.199+303C>G | NP_001309900.1:n.199+303C>G | |
| NM_001322974.2:c.-515-2705C>G | NP_001309903.1:n.-515-2705C>G | |
| NM_001171814.2:c.-215-2705C>G | NP_001165285.1:n.-215-2705C>G |