Linked Data
ClinVar Variation Id:
367246
dbSNP Id:
rs1022291966
gnomAD v3:
9-72577979-C-T
gnomAD v4:
9-72577979-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72577979C>T , CM000671.2:g.72577979C>T | GRCh38 |
| NC_000009.11:g.75192895C>T , CM000671.1:g.75192895C>T | GRCh37 |
| NC_000009.10:g.74382715C>T | NCBI36 |
| NG_008213.1:g.61179C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297784.10:c.-350C>T MANE Select | ENSP00000297784.6:n.-350C>T | |
| ENST00000643676.1:n.307-38389C>T | ||
| ENST00000645053.1:c.-594C>T | ENSP00000493838.1:n.-594C>T | |
| ENST00000645208.2:c.-350C>T | ENSP00000494684.1:n.-350C>T | |
| ENST00000645773.1:c.-350C>T | ENSP00000493698.1:n.-350C>T | |
| ENST00000646244.1:n.60C>T | ||
| ENST00000650689.1:n.143C>T | ||
| ENST00000651183.1:c.-451C>T | ENSP00000498723.1:n.-451C>T | |
| ENST00000651743.1:n.193C>T | ||
| ENST00000297784.9:c.-350C>T | ENSP00000297784.5:n.-350C>T | |
| ENST00000497073.1:n.192C>T | ||
| NM_138691.2:c.-350C>T | NP_619636.2:n.-350C>T | |
| NM_138691.3:c.-350C>T MANE Select | NP_619636.2:n.-350C>T |