Linked Data
ClinVar Variation Id:
988082
ClinVar RCV Id:
RCV001269474
dbSNP Id:
rs1338898111
gnomAD v2:
13-31891825-A-G
gnomAD v3:
13-31317688-A-G
gnomAD v4:
13-31317688-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.31317688A>G , CM000675.2:g.31317688A>G | GRCh38 |
| NC_000013.10:g.31891825A>G , CM000675.1:g.31891825A>G | GRCh37 |
| NC_000013.9:g.30789825A>G | NCBI36 |
| NG_011732.1:g.122714A>G | |
| NG_011732.2:g.122714A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343307.5:c.1184+3A>G MANE Select | ENSP00000343002.4:n.1184+3A>G | |
| ENST00000343307.4:c.1184+3A>G | ENSP00000343002.4:n.1184+3A>G | |
| NM_194318.3:c.1184+3A>G | NP_919299.3:n.1184+3A>G | |
| XM_006719768.2:c.1127+3A>G | XP_006719831.1:n.1127+3A>G | |
| XM_011534936.1:c.1065-6063A>G | XP_011533238.1:n.1065-6063A>G | |
| XM_011534937.1:c.1064+3A>G | XP_011533239.1:n.1064+3A>G | |
| XM_011534938.1:c.1037+3A>G | XP_011533240.1:n.1037+3A>G | |
| XM_006719768.3:c.1127+3A>G | XP_006719831.1:n.1127+3A>G | |
| XM_011534938.2:c.1037+3A>G | XP_011533240.1:n.1037+3A>G | |
| XM_017020395.1:c.1037+3A>G | XP_016875884.1:n.1037+3A>G | |
| NM_194318.4:c.1184+3A>G MANE Select | NP_919299.3:n.1184+3A>G |