Linked Data
ClinVar Variation Id:
228418
dbSNP Id:
rs760225886
ExAC:
1:215990338 C / T
gnomAD v2:
1-215990338-C-T
gnomAD v4:
1-215816996-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215816996C>T , CM000663.2:g.215816996C>T | GRCh38 |
| NC_000001.10:g.215990338C>T , CM000663.1:g.215990338C>T | GRCh37 |
| NC_000001.9:g.214056961C>T | NCBI36 |
| NG_009497.1:g.611401G>A | |
| NG_009497.2:g.611453G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.9570+1G>A MANE Select | ENSP00000305941.3:n.9570+1G>A | |
| ENST00000674083.1:c.9570+1G>A | ENSP00000501296.1:n.9570+1G>A | |
| ENST00000307340.7:c.9570+1G>A | ENSP00000305941.3:n.9570+1G>A | |
| NM_206933.2:c.9570+1G>A | NP_996816.2:n.9570+1G>A | |
| NM_206933.3:c.9570+1G>A | NP_996816.2:n.9570+1G>A | |
| NM_206933.4:c.9570+1G>A MANE Select | NP_996816.3:n.9570+1G>A |