Linked Data
ClinVar Variation Id:
293232
ClinVar RCV Id:
RCV000372399
dbSNP Id:
rs747572423
gnomAD v4:
1-160283113-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160283113C>A , CM000663.2:g.160283113C>A | GRCh38 |
| NC_000001.10:g.160252903C>A , CM000663.1:g.160252903C>A | GRCh37 |
| NC_000001.9:g.158519527C>A | NCBI36 |
| NG_008637.1:g.7039G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.181-4G>T MANE Select | ENSP00000357051.5:n.181-4G>T | |
| ENST00000556710.6:c.71-4G>T | ENSP00000451235.2:n.71-4G>T | |
| ENST00000368072.9:c.181-4G>T | ENSP00000357051.5:n.181-4G>T | |
| ENST00000392220.2:c.121-4G>T | ENSP00000376054.2:n.121-4G>T | |
| ENST00000462644.5:c.121-4G>T | ENSP00000435896.1:n.121-4G>T | |
| ENST00000472750.5:c.71-4G>T | ENSP00000434633.1:n.71-4G>T | |
| ENST00000524939.1:n.198-4G>T | ||
| ENST00000532508.5:n.153-4G>T | ||
| ENST00000532643.5:c.181-4G>T | ENSP00000435915.1:n.181-4G>T | |
| ENST00000533104.1:n.80-4G>T | ||
| ENST00000533699.5:n.175-4G>T | ||
| ENST00000556710.5:c.-175-4G>T | ENSP00000451235.1:n.-175-4G>T | |
| NM_001193644.1:c.181-4G>T | NP_001180573.1:n.181-4G>T | |
| NM_002857.3:c.181-4G>T | NP_002848.1:n.181-4G>T | |
| NR_036492.1:n.98-4G>T | ||
| NR_036493.1:n.208-4G>T | ||
| NM_002857.4:c.181-4G>T MANE Select | NP_002848.1:n.181-4G>T | |
| NR_036492.2:n.80-4G>T | ||
| NR_036493.2:n.190-4G>T |