Linked Data
dbSNP Id:
rs326118
gnomAD v2:
5-7868543-T-G
gnomAD v3:
5-7868430-T-G
gnomAD v4:
5-7868430-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7868430T>G , CM000667.2:g.7868430T>G | GRCh38 |
| NC_000005.9:g.7868543T>G , CM000667.1:g.7868543T>G | GRCh37 |
| NC_000005.8:g.7921543T>G | NCBI36 |
| NG_008856.1:g.4327T>G | |
| NG_033101.1:g.5608A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264669.10:c.-113-234A>C (FASTKD3) MANE Select | ENSP00000264669.5:n.-113-234A>C | |
| ENST00000264669.9:c.-113-234A>C (FASTKD3) | ENSP00000264669.5:n.-113-234A>C | |
| ENST00000282110.8:n.32+549A>C (FASTKD3) | ||
| ENST00000502509.5:n.498+6373T>G (MTRR) | ||
| ENST00000504695.1:c.-24-323A>C (FASTKD3) | ENSP00000426008.1:n.-24-323A>C | |
| ENST00000507572.1:c.1-398A>C (FASTKD3) | ENSP00000422443.1:n.1-398A>C | |
| ENST00000513658.5:n.48+549A>C (FASTKD3) | ||
| NM_024091.3:c.-113-234A>C (FASTKD3) | NP_076996.2:n.-113-234A>C | |
| NR_036553.1:n.59+549A>C (FASTKD3) | ||
| NR_073608.1:n.59+549A>C (FASTKD3) | ||
| XM_006714498.1:c.-24-323A>C (FASTKD3) | XP_006714561.1:n.-24-323A>C | |
| XM_011514044.1:c.-25-2340T>G (MTRR) | XP_011512346.1:n.-25-2340T>G | |
| XR_427664.1:n.60-234A>C (FASTKD3) | ||
| XM_024446064.1:c.-25-2340T>G (MTRR) | XP_024301832.1:n.-25-2340T>G | |
| XR_001742253.1:n.60-323A>C (FASTKD3) | ||
| XR_427664.2:n.60-234A>C (FASTKD3) | ||
| NM_024091.4:c.-113-234A>C (FASTKD3) MANE Select | NP_076996.2:n.-113-234A>C | |
| NR_036553.2:n.53+549A>C (FASTKD3) | ||
| NR_073608.2:n.53+549A>C (FASTKD3) |