Linked Data
dbSNP Id:
rs114532231
gnomAD v2:
2-86860631-C-T
gnomAD v3:
2-86633508-C-T
gnomAD v4:
2-86633508-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86633508C>T , CM000664.2:g.86633508C>T | GRCh38 |
| NC_000002.11:g.86860631C>T , CM000664.1:g.86860631C>T | GRCh37 |
| NC_000002.10:g.86714142C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000604011.5:c.-8-13039G>A | ENSP00000474823.1:n.-8-13039G>A | |
| NM_001198954.1:c.-8-13039G>A | NP_001185883.1:n.-8-13039G>A |