gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.184824934G>C , CM000666.2:g.184824934G>C | GRCh38 |
| NC_000004.11:g.185746088G>C , CM000666.1:g.185746088G>C | GRCh37 |
| NC_000004.10:g.185983082G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505492.2:c.-33+982C>G | ENSP00000425640.2:n.-33+982C>G | |
| ENST00000706366.1:c.-33+982C>G | ENSP00000516351.1:n.-33+982C>G | |
| ENST00000706369.1:c.-33+232C>G | ENSP00000516354.1:n.-33+232C>G | |
| ENST00000281455.7:c.-33+982C>G MANE Select | ENSP00000281455.2:n.-33+982C>G | |
| ENST00000281455.6:c.-33+982C>G | ENSP00000281455.2:n.-33+982C>G | |
| ENST00000454703.6:c.-319+982C>G | ENSP00000407165.2:n.-319+982C>G | |
| ENST00000504900.5:c.-33+982C>G | ENSP00000424935.1:n.-33+982C>G | |
| ENST00000507295.5:c.-33+982C>G | ENSP00000426244.1:n.-33+982C>G | |
| ENST00000515030.5:c.-33+1591C>G | ENSP00000422607.1:n.-33+1591C>G | |
| NM_001286711.1:c.-33+982C>G | NP_001273640.1:n.-33+982C>G | |
| NM_001995.3:c.-33+982C>G | NP_001986.2:n.-33+982C>G | |
| XM_017007887.1:c.-33+1591C>G | XP_016863376.1:n.-33+1591C>G | |
| XM_017007888.2:c.-33+982C>G | XP_016863377.1:n.-33+982C>G | |
| NM_001995.4:c.-33+982C>G | NP_001986.2:n.-33+982C>G | |
| NM_001286711.2:c.-33+982C>G | NP_001273640.1:n.-33+982C>G | |
| NM_001381877.1:c.-98+982C>G | NP_001368806.1:n.-98+982C>G | |
| NM_001381878.1:c.-33+232C>G | NP_001368807.1:n.-33+232C>G | |
| NM_001381884.1:c.-33+982C>G | NP_001368813.1:n.-33+982C>G | |
| NM_001381885.1:c.-98+982C>G | NP_001368814.1:n.-98+982C>G | |
| NM_001995.5:c.-33+982C>G MANE Select | NP_001986.2:n.-33+982C>G | |
| NR_167702.1:n.53+982C>G | ||
| NR_167703.1:n.53+982C>G | ||
| NR_167704.1:n.53+982C>G | ||
| NR_167705.1:n.53+982C>G | ||
| NR_167706.1:n.53+982C>G |