MyVariant.info:
GRCh38
chr17:g.35871589T>C
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23996677 (AFR)
Genomes Max Group AF
0.23997826 (AFR)
Exomes Max Group AF
0.00846001 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35871589T>C , CM000679.2:g.35871589T>C | GRCh38 |
| NC_000017.9:g.31222706T>C | NCBI36 |
| NG_015990.1:g.13785A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000603197.6:c.*788A>G | ENSP00000474412.1:n.*788A>G | |
| ENST00000605140.6:c.*788A>G MANE Select | ENSP00000475057.1:n.*788A>G | |
| ENST00000651122.1:c.*681A>G | ENSP00000499138.1:n.*681A>G | |
| ENST00000603197.5:c.*788A>G | ENSP00000474412.1:n.*788A>G | |
| ENST00000605140.5:c.*788A>G | ENSP00000475057.1:n.*788A>G | |
| NM_001278736.1:c.*681A>G | NP_001265665.1:n.*681A>G | |
| NM_002985.2:c.*788A>G | NP_002976.2:n.*788A>G | |
| XR_934696.1:n.196+2471T>C | ||
| XR_934697.1:n.199+2471T>C | ||
| XR_934696.2:n.90+2471T>C | ||
| XR_934697.2:n.90+2471T>C | ||
| NM_001278736.2:c.*681A>G | NP_001265665.1:n.*681A>G | |
| NM_002985.3:c.*788A>G MANE Select | NP_002976.2:n.*788A>G |