Linked Data
dbSNP Id:
rs1361848890
gnomAD v2:
5-134364435-T-C
gnomAD v4:
5-135028745-T-C
MyVariant Identifiers:
chr5:g.134364435_134364442delinsCCCGGCCG (hg19)
chr5:g.135028745_135028752delinsCCCGGCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028745T>C , CM000667.2:g.135028745T>C | GRCh38 |
| NC_000005.9:g.134364435T>C , CM000667.1:g.134364435T>C | GRCh37 |
| NC_000005.8:g.134392334T>C | NCBI36 |
| NG_012114.1:g.10530A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*34A>G MANE Select | ENSP00000265340.6:n.*34A>G | |
| ENST00000265340.11:c.*34A>G | ENSP00000265340.6:n.*34A>G | |
| ENST00000506438.5:c.*34A>G | ENSP00000427542.1:n.*34A>G | |
| NM_002653.4:c.*34A>G | NP_002644.4:n.*34A>G | |
| NM_002653.5:c.*34A>G MANE Select | NP_002644.4:n.*34A>G |