Linked Data
ClinVar Variation Id:
128752
dbSNP Id:
rs2302765
ExAC:
17:7350975 T / C
gnomAD v2:
17-7350975-T-C
gnomAD v3:
17-7447656-T-C
gnomAD v4:
17-7447656-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7447656T>C , CM000679.2:g.7447656T>C | GRCh38 |
| NC_000017.10:g.7350975T>C , CM000679.1:g.7350975T>C | GRCh37 |
| NC_000017.9:g.7291699T>C | NCBI36 |
| NG_008026.1:g.7570T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306071.7:c.610+6T>C MANE Select | ENSP00000304290.2:n.610+6T>C | |
| ENST00000306071.6:c.610+6T>C | ENSP00000304290.2:n.610+6T>C | |
| ENST00000536404.6:c.394+6T>C | ENSP00000439209.2:n.394+6T>C | |
| ENST00000570557.5:c.483+6T>C | ||
| ENST00000573209.1:n.1554+6T>C | ||
| ENST00000576360.1:c.394+6T>C | ENSP00000459092.1:n.394+6T>C | |
| NM_000747.2:c.610+6T>C | NP_000738.2:n.610+6T>C | |
| NM_000747.3:c.610+6T>C MANE Select | NP_000738.2:n.610+6T>C |