Linked Data
ClinVar Variation Id:
324903
ClinVar RCV Id:
RCV001558638
dbSNP Id:
rs111264561
gnomAD v2:
17-70117377-T-A
gnomAD v3:
17-72121236-T-A
gnomAD v4:
17-72121236-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72121236T>A , CM000679.2:g.72121236T>A | GRCh38 |
| NC_000017.10:g.70117377T>A , CM000679.1:g.70117377T>A | GRCh37 |
| NC_000017.9:g.67628972T>A | NCBI36 |
| NG_012490.1:g.5217T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.-156T>A MANE Select | ENSP00000245479.2:n.-156T>A | |
| ENST00000245479.2:c.-156T>A | ENSP00000245479.2:n.-156T>A | |
| NM_000346.3:c.-156T>A | NP_000337.1:n.-156T>A | |
| NM_000346.4:c.-156T>A MANE Select | NP_000337.1:n.-156T>A |