Linked Data
ClinVar Variation Id:
1006525
ClinVar RCV Id:
RCV001303582
dbSNP Id:
rs930997590
gnomAD v2:
7-55242412-T-C
gnomAD v3:
7-55174719-T-C
gnomAD v4:
7-55174719-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174719T>C , CM000669.2:g.55174719T>C | GRCh38 |
| NC_000007.13:g.55242412T>C , CM000669.1:g.55242412T>C | GRCh37 |
| NC_000007.12:g.55209906T>C | NCBI36 |
| NG_007726.3:g.160688T>C , LRG_304:g.160688T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2026-3T>C | ENSP00000413354.2:n.2026-3T>C | |
| ENST00000700145.1:c.534-3T>C | ||
| ENST00000275493.7:c.2185-3T>C MANE Select | ENSP00000275493.2:n.2185-3T>C | |
| ENST00000275493.6:c.2185-3T>C | ENSP00000275493.2:n.2185-3T>C | |
| ENST00000442591.5:c.*28+1791T>C | ENSP00000410031.1:n.*28+1791T>C | |
| ENST00000454757.6:c.2050-3T>C | ENSP00000395243.3:n.2050-3T>C | |
| ENST00000455089.5:c.2050-3T>C | ENSP00000415559.1:n.2050-3T>C | |
| NM_005228.3:c.2185-3T>C , LRG_304t1:c.2185-3T>C | NP_005219.2:n.2185-3T>C | |
| NM_001346897.1:c.2050-3T>C | NP_001333826.1:n.2050-3T>C | |
| NM_001346898.1:c.2185-3T>C | NP_001333827.1:n.2185-3T>C | |
| NM_001346899.1:c.2050-3T>C | NP_001333828.1:n.2050-3T>C | |
| NM_001346900.1:c.2026-3T>C | NP_001333829.1:n.2026-3T>C | |
| NM_001346941.1:c.1384-3T>C | NP_001333870.1:n.1384-3T>C | |
| NM_005228.4:c.2185-3T>C | NP_005219.2:n.2185-3T>C | |
| NM_005228.5:c.2185-3T>C MANE Select | NP_005219.2:n.2185-3T>C | |
| NM_001346897.2:c.2050-3T>C | NP_001333826.1:n.2050-3T>C | |
| NM_001346898.2:c.2185-3T>C | NP_001333827.1:n.2185-3T>C | |
| NM_001346900.2:c.2026-3T>C | NP_001333829.1:n.2026-3T>C | |
| NM_001346941.2:c.1384-3T>C | NP_001333870.1:n.1384-3T>C | |
| NM_001346899.2:c.2050-3T>C | NP_001333828.1:n.2050-3T>C |