Linked Data
ClinVar Variation Id:
913780
ClinVar RCV Id:
RCV001167583
dbSNP Id:
rs886063523
gnomAD v4:
9-129813807-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813807C>A , CM000671.2:g.129813807C>A | GRCh38 |
| NC_000009.11:g.132576086C>A , CM000671.1:g.132576086C>A | GRCh37 |
| NC_000009.10:g.131615907C>A | NCBI36 |
| NG_008049.1:g.15356G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*165G>T MANE Select | ENSP00000345719.4:n.*165G>T | |
| ENST00000651202.1:c.*432G>T | ENSP00000498222.1:n.*432G>T | |
| ENST00000351698.4:c.*165G>T | ENSP00000345719.4:n.*165G>T | |
| ENST00000474192.1:n.748G>T | ||
| NM_000113.2:c.*165G>T | NP_000104.1:n.*165G>T | |
| XR_929731.3:n.1359G>T | ||
| NM_000113.3:c.*165G>T MANE Select | NP_000104.1:n.*165G>T |