Linked Data
ClinVar Variation Id:
528232
dbSNP Id:
rs1880555
gnomAD v2:
7-65432567-T-C
gnomAD v3:
7-65967580-T-C
gnomAD v4:
7-65967580-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65967580T>C , CM000669.2:g.65967580T>C | GRCh38 |
| NC_000007.13:g.65432567T>C , CM000669.1:g.65432567T>C | GRCh37 |
| NC_000007.12:g.65070002T>C | NCBI36 |
| NG_016197.1:g.19735A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1653+151A>G MANE Select | ENSP00000302728.4:n.1653+151A>G | |
| ENST00000304895.8:c.1653+151A>G | ENSP00000302728.4:n.1653+151A>G | |
| ENST00000421103.5:c.1215+151A>G | ENSP00000391390.1:n.1215+151A>G | |
| ENST00000430730.5:c.*920+151A>G | ENSP00000411859.1:n.*920+151A>G | |
| ENST00000447929.5:c.*1033+151A>G | ENSP00000411262.1:n.*1033+151A>G | |
| ENST00000461622.1:n.178+151A>G | ||
| ENST00000462371.1:n.691+151A>G | ||
| ENST00000466883.5:n.2043+151A>G | ||
| NM_000181.3:c.1653+151A>G | NP_000172.2:n.1653+151A>G | |
| NM_001284290.1:c.1215+151A>G | NP_001271219.1:n.1215+151A>G | |
| NM_001293104.1:c.1083+151A>G | NP_001280033.1:n.1083+151A>G | |
| NM_001293105.1:c.996+151A>G | NP_001280034.1:n.996+151A>G | |
| NR_120531.1:n.1699+151A>G | ||
| XM_005250297.3:c.1500+151A>G | XP_005250354.1:n.1500+151A>G | |
| XM_011516113.1:c.1152+151A>G | XP_011514415.1:n.1152+151A>G | |
| XM_011516114.1:c.981+151A>G | XP_011514416.1:n.981+151A>G | |
| XR_927461.1:n.1739+151A>G | ||
| XM_005250297.4:c.1500+151A>G | XP_005250354.1:n.1500+151A>G | |
| XM_011516114.2:c.981+151A>G | XP_011514416.1:n.981+151A>G | |
| XM_017012091.1:c.999+151A>G | XP_016867580.1:n.999+151A>G | |
| XM_017012092.1:c.930+151A>G | XP_016867581.1:n.930+151A>G | |
| XM_017012093.2:c.828+151A>G | XP_016867582.1:n.828+151A>G | |
| XR_001744658.2:n.1460+151A>G | ||
| XR_001744659.2:n.1573+151A>G | ||
| XR_001744660.2:n.1505+151A>G | ||
| XR_001744661.2:n.1420+151A>G | ||
| XR_927461.3:n.1658+151A>G | ||
| NM_000181.4:c.1653+151A>G MANE Select | NP_000172.2:n.1653+151A>G | |
| NM_001284290.2:c.1215+151A>G | NP_001271219.1:n.1215+151A>G | |
| NM_001293104.2:c.1083+151A>G | NP_001280033.1:n.1083+151A>G | |
| NM_001293105.2:c.996+151A>G | NP_001280034.1:n.996+151A>G | |
| NR_120531.2:n.1598+151A>G |