Linked Data
dbSNP Id:
rs577888495
gnomAD v2:
2-48010267-G-C
gnomAD v3:
2-47783128-G-C
gnomAD v4:
2-47783128-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47783128G>C , CM000664.2:g.47783128G>C | GRCh38 |
| NC_000002.11:g.48010267G>C , CM000664.1:g.48010267G>C | GRCh37 |
| NC_000002.10:g.47863771G>C | NCBI36 |
| NG_007111.1:g.4982G>C , LRG_219:g.4982G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652107.1:c.-37-7799G>C | ENSP00000498629.1:n.-37-7799G>C | |
| ENST00000234420.9:c.-106G>C | ENSP00000234420.4:n.-106G>C | |
| ENST00000445503.5:c.-106G>C | ENSP00000405294.1:n.-106G>C | |
| ENST00000456246.1:c.-106G>C | ENSP00000410570.1:n.-106G>C | |
| ENST00000540021.5:c.-106G>C | ENSP00000446475.1:n.-106G>C | |
| ENST00000606499.1:c.-37-7799G>C | ENSP00000475605.1:n.-37-7799G>C | |
| ENST00000614496.4:c.-842G>C | ENSP00000477844.1:n.-842G>C | |
| ENST00000622629.4:c.-3202G>C | ENSP00000482078.1:n.-3202G>C | |
| NM_000179.2:c.-106G>C , LRG_219t1:c.-106G>C | NP_000170.1:n.-106G>C | |
| NM_001281492.1:c.-106G>C | NP_001268421.1:n.-106G>C | |
| NM_001281493.1:c.-842G>C | NP_001268422.1:n.-842G>C |