Linked Data
dbSNP Id:
rs547538493
gnomAD v3:
17-7688472-A-C
gnomAD v4:
17-7688472-A-C
MyVariant Identifiers:
chr17:g.7688472A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7688472A>C , CM000679.2:g.7688472A>C | GRCh38 |
| NC_000017.10:g.7591790A>C , CM000679.1:g.7591790A>C | GRCh37 |
| NC_000017.9:g.7532515A>C | NCBI36 |
| NG_017013.2:g.4079T>G , LRG_321:g.4079T>G | |
| NG_028245.1:g.7402A>C , LRG_375:g.7402A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698742.1:c.-91A>C | ENSP00000513904.1:n.-91A>C | |
| ENST00000698743.1:c.-91A>C | ENSP00000513905.1:n.-91A>C | |
| ENST00000698744.1:c.-91A>C | ENSP00000513906.1:n.-91A>C | |
| ENST00000698745.1:c.-91A>C | ENSP00000513907.1:n.-91A>C | |
| ENST00000316024.9:c.-177A>C | ENSP00000324203.5:n.-177A>C | |
| ENST00000396463.6:c.-91A>C | ENSP00000379727.2:n.-91A>C | |
| ENST00000431639.6:c.-1-176A>C | ENSP00000397219.2:n.-1-176A>C | |
| ENST00000457584.6:c.-1-176A>C | ENSP00000411061.2:n.-1-176A>C | |
| ENST00000498311.5:c.-91A>C | ENSP00000432991.1:n.-91A>C | |
| NM_001143990.1:c.-1-176A>C | NP_001137462.1:n.-1-176A>C | |
| NM_001143991.1:c.-1-176A>C | NP_001137463.1:n.-1-176A>C | |
| NM_001143992.1:c.-91A>C | NP_001137464.1:n.-91A>C | |
| NM_018081.2:c.-177A>C , LRG_375t1:c.-177A>C | NP_060551.2:n.-177A>C | |
| XM_024450825.1:c.-91A>C | XP_024306593.1:n.-91A>C | |
| XR_001752551.2:n.155A>C | ||
| NM_001143991.2:c.-1-176A>C | NP_001137463.1:n.-1-176A>C | |
| NM_001143990.2:c.-1-176A>C | NP_001137462.1:n.-1-176A>C |