Linked Data
ClinVar Variation Id:
1316884
ClinVar RCV Id:
RCV001757700
dbSNP Id:
rs8050894
gnomAD v2:
16-31104509-C-T
gnomAD v3:
16-31093188-C-T
gnomAD v4:
16-31093188-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31093188C>T , CM000678.2:g.31093188C>T | GRCh38 |
| NC_000016.9:g.31104509C>T , CM000678.1:g.31104509C>T | GRCh37 |
| NC_000016.8:g.31012010C>T | NCBI36 |
| NG_011564.1:g.6768G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394975.3:c.283+124G>A MANE Select | ENSP00000378426.2:n.283+124G>A | |
| ENST00000300851.10:c.344+124G>A | ENSP00000300851.6:n.344+124G>A | |
| ENST00000319788.11:c.283+124G>A | ENSP00000326135.7:n.283+124G>A | |
| ENST00000354895.4:c.173+1369G>A | ENSP00000346969.4:n.173+1369G>A | |
| ENST00000394971.7:c.377+124G>A | ENSP00000378422.3:n.377+124G>A | |
| ENST00000394975.2:c.283+124G>A | ENSP00000378426.2:n.283+124G>A | |
| ENST00000420057.2:c.246-1846G>A | ||
| ENST00000472468.1:c.-33+124G>A | ENSP00000458994.1:n.-33+124G>A | |
| ENST00000498155.1:c.380+124G>A | ENSP00000417662.1:n.380+124G>A | |
| ENST00000529564.1:c.283+124G>A | ENSP00000431371.1:n.283+124G>A | |
| ENST00000532364.1:c.173+1369G>A | ENSP00000460316.1:n.173+1369G>A | |
| ENST00000533518.5:c.156+124G>A | ||
| NM_001311311.1:c.283+124G>A | NP_001298240.1:n.283+124G>A | |
| NM_024006.4:c.283+124G>A | NP_076869.1:n.283+124G>A | |
| NM_024006.5:c.283+124G>A | NP_076869.1:n.283+124G>A | |
| NM_206824.1:c.173+1369G>A | NP_996560.1:n.173+1369G>A | |
| NM_206824.2:c.173+1369G>A | NP_996560.1:n.173+1369G>A | |
| XM_011545944.1:c.283+124G>A | XP_011544246.1:n.283+124G>A | |
| XM_011545945.1:c.173+1369G>A | XP_011544247.1:n.173+1369G>A | |
| XR_950848.1:n.1071+124G>A | ||
| NM_024006.6:c.283+124G>A MANE Select | NP_076869.1:n.283+124G>A | |
| NM_001311311.2:c.283+124G>A | NP_001298240.1:n.283+124G>A | |
| NM_206824.3:c.173+1369G>A | NP_996560.1:n.173+1369G>A |