Linked Data
ClinVar Variation Id:
317435
ClinVar RCV Id:
RCV000274529
dbSNP Id:
rs773762275
gnomAD v3:
15-91022548-A-C
gnomAD v4:
15-91022548-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91022548A>C , CM000677.2:g.91022548A>C | GRCh38 |
| NC_000015.9:g.91565778A>C , CM000677.1:g.91565778A>C | GRCh37 |
| NC_000015.8:g.89366782A>C | NCBI36 |
| NG_012162.1:g.5056T>G , LRG_884:g.5056T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333371.8:c.-299T>G MANE Select | ENSP00000327650.4:n.-299T>G | |
| ENST00000643536.1:c.-299T>G | ENSP00000494429.1:n.-299T>G | |
| ENST00000333371.7:c.-299T>G | ENSP00000327650.3:n.-299T>G | |
| ENST00000535906.1:c.-299T>G | ENSP00000444053.1:n.-299T>G | |
| ENST00000556096.6:n.56T>G | ||
| ENST00000557358.1:n.49T>G | ||
| NM_001289148.1:c.-299T>G | NP_001276077.1:n.-299T>G | |
| NM_001289149.1:c.-510T>G | NP_001276078.1:n.-510T>G | |
| NM_018668.4:c.-299T>G , LRG_884t1:c.-299T>G | NP_061138.3:n.-299T>G | |
| XM_005254884.2:c.-299T>G | XP_005254941.1:n.-299T>G | |
| XM_005254887.1:c.-429T>G | XP_005254944.1:n.-429T>G | |
| XM_005254888.2:c.-299T>G | XP_005254945.1:n.-299T>G | |
| XM_011521448.1:c.-612T>G | XP_011519750.1:n.-612T>G | |
| XM_017022075.2:c.-660T>G | XP_016877564.1:n.-660T>G | |
| XM_017022076.1:c.-517T>G | XP_016877565.1:n.-517T>G | |
| XR_001751213.2:n.38T>G | ||
| NM_018668.5:c.-299T>G MANE Select | NP_061138.3:n.-299T>G |