Linked Data
ClinVar Variation Id:
1569246
ClinVar RCV Id:
RCV002218955
dbSNP Id:
rs2131001424
gnomAD v4:
9-129814227-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814227G>A , CM000671.2:g.129814227G>A | GRCh38 |
| NC_000009.11:g.132576506G>A , CM000671.1:g.132576506G>A | GRCh37 |
| NC_000009.10:g.131616327G>A | NCBI36 |
| NG_008049.1:g.14936C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.749-5C>T MANE Select | ENSP00000345719.4:n.749-5C>T | |
| ENST00000651202.1:c.*17-5C>T | ENSP00000498222.1:n.*17-5C>T | |
| ENST00000351698.4:c.749-5C>T | ENSP00000345719.4:n.749-5C>T | |
| ENST00000474192.1:n.333-5C>T | ||
| NM_000113.2:c.749-5C>T | NP_000104.1:n.749-5C>T | |
| XR_929731.1:n.1076-5C>T | ||
| XR_929731.3:n.944-5C>T | ||
| NM_000113.3:c.749-5C>T MANE Select | NP_000104.1:n.749-5C>T |