Linked Data
dbSNP Id:
rs1224658569
gnomAD v2:
17-15902996-G-C
gnomAD v3:
17-15999682-G-C
gnomAD v4:
17-15999682-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999682G>C , CM000679.2:g.15999682G>C | GRCh38 |
| NC_000017.10:g.15902996G>C , CM000679.1:g.15902996G>C | GRCh37 |
| NC_000017.9:g.15843721G>C | NCBI36 |
| NG_029806.1:g.5303G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399277.6:c.-88C>G (ZSWIM7) MANE Select | ENSP00000382218.1:n.-88C>G | |
| ENST00000261647.9:c.-167G>C (TTC19) | ENSP00000261647.5:n.-167G>C | |
| ENST00000399277.5:c.-88C>G (ZSWIM7) | ENSP00000382218.1:n.-88C>G | |
| ENST00000399280.6:n.13C>G (ZSWIM7) | ||
| ENST00000460315.5:c.-88C>G (ZSWIM7) | ENSP00000462590.1:n.-88C>G | |
| ENST00000472495.5:c.-88C>G (ZSWIM7) | ENSP00000419138.1:n.-88C>G | |
| ENST00000491631.5:c.-88C>G (ZSWIM7) | ENSP00000462598.1:n.-88C>G | |
| ENST00000495825.6:n.2C>G (ZSWIM7) | ||
| ENST00000497719.5:n.32C>G (ZSWIM7) | ||
| ENST00000579955.1:c.-88C>G (ZSWIM7) | ENSP00000463444.1:n.-88C>G | |
| NM_001042697.1:c.-88C>G (ZSWIM7) | NP_001036162.1:n.-88C>G | |
| NM_001042698.1:c.-88C>G (ZSWIM7) | NP_001036163.1:n.-88C>G | |
| NM_001271420.1:c.-625G>C (TTC19) | NP_001258349.1:n.-625G>C | |
| NM_017775.3:c.-167G>C (TTC19) | NP_060245.3:n.-167G>C | |
| NM_001042697.2:c.-88C>G (ZSWIM7) MANE Select | NP_001036162.1:n.-88C>G | |
| NM_001042698.2:c.-88C>G (ZSWIM7) | NP_001036163.1:n.-88C>G |