Linked Data
dbSNP Id:
rs74730394
gnomAD v2:
17-38082487-T-C
gnomAD v3:
17-39926234-T-C
gnomAD v4:
17-39926234-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39926234T>C , CM000679.2:g.39926234T>C | GRCh38 |
| NC_000017.10:g.38082487T>C , CM000679.1:g.38082487T>C | GRCh37 |
| NC_000017.9:g.35336013T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304046.7:c.-23+1250A>G MANE Select | ENSP00000304858.2:n.-23+1250A>G | |
| ENST00000304046.6:c.-23+1250A>G | ENSP00000304858.2:n.-23+1250A>G | |
| ENST00000394169.5:c.-888A>G | ENSP00000377724.1:n.-888A>G | |
| ENST00000579695.5:c.-18+1250A>G | ENSP00000464693.1:n.-18+1250A>G | |
| ENST00000582052.1:n.136A>G | ||
| ENST00000584000.1:c.-23+833A>G | ENSP00000464298.1:n.-23+833A>G | |
| NM_139280.2:c.-23+1250A>G | NP_644809.1:n.-23+1250A>G | |
| XM_005257825.3:c.-23+583A>G | XP_005257882.2:n.-23+583A>G | |
| XM_005257827.2:c.-18+1250A>G | XP_005257884.1:n.-18+1250A>G | |
| NM_001320801.1:c.-888A>G | NP_001307730.1:n.-888A>G | |
| NM_001320802.1:c.-18+1250A>G | NP_001307731.1:n.-18+1250A>G | |
| NM_001320803.1:c.-23+583A>G | NP_001307732.1:n.-23+583A>G | |
| NM_139280.3:c.-23+1250A>G | NP_644809.1:n.-23+1250A>G | |
| NM_139280.4:c.-23+1250A>G MANE Select | NP_644809.1:n.-23+1250A>G | |
| NM_001320802.2:c.-18+1250A>G | NP_001307731.1:n.-18+1250A>G | |
| NM_001320801.2:c.-888A>G | NP_001307730.1:n.-888A>G |