Linked Data
ClinVar Variation Id:
56126
ClinVar RCV Id:
RCV000049535
dbSNP Id:
rs386833608
gnomAD v4:
10-124408639-T-C
PubMed:
PMID:1487247
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124408639T>C , CM000672.2:g.124408639T>C | GRCh38 |
| NC_000010.10:g.126097208T>C , CM000672.1:g.126097208T>C | GRCh37 |
| NC_000010.9:g.126087198T>C | NCBI36 |
| NG_008861.1:g.15312A>G , LRG_685:g.15312A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.425-2A>G MANE Select | ENSP00000357838.5:n.425-2A>G | |
| ENST00000368845.5:c.425-2A>G | ENSP00000357838.5:n.425-2A>G | |
| ENST00000467675.5:n.52-2A>G | ||
| ENST00000476917.5:n.490-2A>G | ||
| ENST00000539214.5:c.11-2A>G | ENSP00000439042.1:n.11-2A>G | |
| NM_000274.3:c.425-2A>G , LRG_685t1:c.425-2A>G | NP_000265.1:n.425-2A>G | |
| NM_001171814.1:c.11-2A>G | NP_001165285.1:n.11-2A>G | |
| XM_006717871.2:c.425-2A>G | XP_006717934.1:n.425-2A>G | |
| XM_011539833.1:c.425-2A>G | XP_011538135.1:n.425-2A>G | |
| XM_011539834.1:c.425-2A>G | XP_011538136.1:n.425-2A>G | |
| NM_001322965.1:c.425-2A>G | NP_001309894.1:n.425-2A>G | |
| NM_001322966.1:c.425-2A>G | NP_001309895.1:n.425-2A>G | |
| NM_001322967.1:c.425-2A>G | NP_001309896.1:n.425-2A>G | |
| NM_001322968.1:c.425-2A>G | NP_001309897.1:n.425-2A>G | |
| NM_001322969.1:c.425-2A>G | NP_001309898.1:n.425-2A>G | |
| NM_001322970.1:c.425-2A>G | NP_001309899.1:n.425-2A>G | |
| NM_001322971.1:c.200-3076A>G | NP_001309900.1:n.200-3076A>G | |
| NM_001322974.1:c.-290-2A>G | NP_001309903.1:n.-290-2A>G | |
| XM_017016279.1:c.-2029-2A>G | XP_016871768.1:n.-2029-2A>G | |
| NM_000274.4:c.425-2A>G MANE Select | NP_000265.1:n.425-2A>G | |
| NM_001322965.2:c.425-2A>G | NP_001309894.1:n.425-2A>G | |
| NM_001322966.2:c.425-2A>G | NP_001309895.1:n.425-2A>G | |
| NM_001322967.2:c.425-2A>G | NP_001309896.1:n.425-2A>G | |
| NM_001322968.2:c.425-2A>G | NP_001309897.1:n.425-2A>G | |
| NM_001322969.2:c.425-2A>G | NP_001309898.1:n.425-2A>G | |
| NM_001322970.2:c.425-2A>G | NP_001309899.1:n.425-2A>G | |
| NM_001322971.2:c.200-3076A>G | NP_001309900.1:n.200-3076A>G | |
| NM_001322974.2:c.-290-2A>G | NP_001309903.1:n.-290-2A>G | |
| NM_001171814.2:c.11-2A>G | NP_001165285.1:n.11-2A>G |