Linked Data
ClinVar Variation Id:
317436
ClinVar RCV Id:
RCV001698762
dbSNP Id:
rs11073967
gnomAD v2:
15-91565804-A-G
gnomAD v3:
15-91022574-A-G
gnomAD v4:
15-91022574-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91022574A>G , CM000677.2:g.91022574A>G | GRCh38 |
| NC_000015.9:g.91565804A>G , CM000677.1:g.91565804A>G | GRCh37 |
| NC_000015.8:g.89366808A>G | NCBI36 |
| NG_012162.1:g.5030T>C , LRG_884:g.5030T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333371.8:c.-325T>C MANE Select | ENSP00000327650.4:n.-325T>C | |
| ENST00000333371.7:c.-325T>C | ENSP00000327650.3:n.-325T>C | |
| ENST00000535906.1:c.-325T>C | ENSP00000444053.1:n.-325T>C | |
| ENST00000556096.6:n.30T>C | ||
| ENST00000557358.1:n.23T>C | ||
| NM_001289148.1:c.-325T>C | NP_001276077.1:n.-325T>C | |
| NM_001289149.1:c.-536T>C | NP_001276078.1:n.-536T>C | |
| NM_018668.4:c.-325T>C , LRG_884t1:c.-325T>C | NP_061138.3:n.-325T>C | |
| XM_005254884.2:c.-325T>C | XP_005254941.1:n.-325T>C | |
| XM_005254887.1:c.-455T>C | XP_005254944.1:n.-455T>C | |
| XM_005254888.2:c.-325T>C | XP_005254945.1:n.-325T>C | |
| XM_011521448.1:c.-638T>C | XP_011519750.1:n.-638T>C | |
| XM_017022075.2:c.-686T>C | XP_016877564.1:n.-686T>C | |
| XM_017022076.1:c.-543T>C | XP_016877565.1:n.-543T>C | |
| XR_001751213.2:n.12T>C | ||
| NM_018668.5:c.-325T>C MANE Select | NP_061138.3:n.-325T>C |