Linked Data
ClinVar Variation Id:
347956
ClinVar RCV Id:
RCV000341906
dbSNP Id:
rs566605780
ExAC:
4:159601647 T / C
gnomAD v2:
4-159601647-T-C
gnomAD v3:
4-158680495-T-C
gnomAD v4:
4-158680495-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158680495T>C , CM000666.2:g.158680495T>C | GRCh38 |
| NC_000004.11:g.159601647T>C , CM000666.1:g.159601647T>C | GRCh37 |
| NC_000004.10:g.159821097T>C | NCBI36 |
| NG_007078.2:g.13154T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436096.3:n.314T>C | ||
| ENST00000507475.6:n.179-4097T>C | ||
| ENST00000681978.1:n.312T>C | ||
| ENST00000682178.1:n.88T>C | ||
| ENST00000682345.1:c.35-33T>C | ENSP00000508122.1:n.35-33T>C | |
| ENST00000682409.1:n.172T>C | ||
| ENST00000682452.1:n.394T>C | ||
| ENST00000682456.1:c.63T>C | ENSP00000508240.1:p.Ile21= | |
| ENST00000682601.1:n.254T>C | ||
| ENST00000682734.1:c.-649-4097T>C | ENSP00000507860.1:n.-649-4097T>C | |
| ENST00000682820.1:n.100T>C | ||
| ENST00000682910.1:n.370T>C | ||
| ENST00000683004.1:c.63T>C | ENSP00000506936.1:p.Ile21= | |
| ENST00000683079.1:c.63T>C | ENSP00000507296.1:p.Ile21= | |
| ENST00000683081.1:c.63T>C | ENSP00000507722.1:p.Ile21= | |
| ENST00000683305.1:c.-52-1076T>C | ENSP00000508043.1:n.-52-1076T>C | |
| ENST00000683448.1:c.-90-4097T>C | ENSP00000506931.1:n.-90-4097T>C | |
| ENST00000683478.1:c.63T>C | ENSP00000507793.1:p.Ile21= | |
| ENST00000683483.1:c.63T>C | ENSP00000507719.1:p.Ile21= | |
| ENST00000683750.1:n.186T>C | ||
| ENST00000683751.1:c.-90-4097T>C | ENSP00000506944.1:n.-90-4097T>C | |
| ENST00000683799.1:n.372T>C | ||
| ENST00000684036.1:c.-121T>C | ENSP00000507276.1:n.-121T>C | |
| ENST00000684129.1:c.-694-4097T>C | ENSP00000507174.1:n.-694-4097T>C | |
| ENST00000684209.1:n.303T>C | ||
| ENST00000684296.1:c.63T>C | ENSP00000507740.1:p.Ile21= | |
| ENST00000684505.1:c.63T>C | ENSP00000508237.1:p.Ile21= | |
| ENST00000684552.1:c.63T>C | ENSP00000506899.1:p.Ile21= | |
| ENST00000684611.1:n.204T>C | ||
| ENST00000684622.1:c.63T>C | ENSP00000507546.1:p.Ile21= | |
| ENST00000684627.1:c.-121T>C | ENSP00000507471.1:n.-121T>C | |
| ENST00000684641.1:c.63T>C | ENSP00000507642.1:p.Ile21= | |
| ENST00000684675.1:c.63T>C | ENSP00000506934.1:p.Ile21= | |
| ENST00000684749.1:n.88T>C | ||
| ENST00000511912.6:c.63T>C MANE Select | ENSP00000426638.1:p.Ile21= | |
| ENST00000307738.5:c.35-1700T>C | ENSP00000303552.5:n.35-1700T>C | |
| ENST00000436096.2:n.204T>C | ||
| ENST00000506422.1:n.86+8005T>C | ||
| ENST00000507475.5:c.-90-4097T>C | ENSP00000422735.1:n.-90-4097T>C | |
| ENST00000511912.5:c.63T>C | ENSP00000426638.1:p.Ile21= | |
| ENST00000512251.5:c.35-33T>C | ENSP00000425661.1:n.35-33T>C | |
| NM_001281737.1:c.35-1700T>C | NP_001268666.1:n.35-1700T>C | |
| NM_004453.3:c.63T>C | NP_004444.2:p.Ile21= | |
| XM_024453935.1:c.-121T>C | XP_024309703.1:n.-121T>C | |
| NM_004453.4:c.63T>C MANE Select | NP_004444.2:p.Ile21= | |
| NM_001281737.2:c.35-1700T>C | NP_001268666.1:n.35-1700T>C |