Linked Data
dbSNP Id:
rs2298735
gnomAD v2:
4-100815617-A-C
gnomAD v3:
4-99894460-A-C
gnomAD v4:
4-99894460-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99894460A>C , CM000666.2:g.99894460A>C | GRCh38 |
| NC_000004.11:g.100815617A>C , CM000666.1:g.100815617A>C | GRCh37 |
| NC_000004.10:g.101034640A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000499666.6:c.-163T>G | ENSP00000424183.1:n.-163T>G | |
| NM_001243736.1:c.-163T>G | NP_001230665.1:n.-163T>G | |
| NM_021970.3:c.-163T>G | NP_068805.1:n.-163T>G | |
| NR_024170.1:n.87T>G |