Linked Data
dbSNP Id:
rs1161152675
gnomAD v2:
7-16500143-G-T
gnomAD v3:
7-16460518-G-T
gnomAD v4:
7-16460518-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16460518G>T , CM000669.2:g.16460518G>T | GRCh38 |
| NC_000007.13:g.16500143G>T , CM000669.1:g.16500143G>T | GRCh37 |
| NC_000007.12:g.16466668G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674759.1:c.-47+35862C>A | ENSP00000502749.1:n.-47+35862C>A | |
| ENST00000675257.1:c.-47+35862C>A | ENSP00000501664.1:n.-47+35862C>A | |
| XM_011515502.1:c.-47+35862C>A | XP_011513804.1:n.-47+35862C>A | |
| XM_011515503.1:c.-47+35862C>A | XP_011513805.1:n.-47+35862C>A | |
| XM_011515504.1:c.-47+35862C>A | XP_011513806.1:n.-47+35862C>A | |
| XM_011515505.1:c.-47+35862C>A | XP_011513807.1:n.-47+35862C>A | |
| XM_011515506.1:c.-47+35862C>A | XP_011513808.1:n.-47+35862C>A | |
| XM_011515507.1:c.-47+35862C>A | XP_011513809.1:n.-47+35862C>A | |
| XR_927059.1:n.319G>T | ||
| XM_024446909.1:c.-47+35862C>A | XP_024302677.1:n.-47+35862C>A | |
| XM_024446910.1:c.-47+35862C>A | XP_024302678.1:n.-47+35862C>A | |
| XM_024446911.1:c.-47+35862C>A | XP_024302679.1:n.-47+35862C>A |