Linked Data
dbSNP Id:
rs4988514
ExAC:
3:187386831 T / C
gnomAD v2:
3-187386831-T-C
gnomAD v3:
3-187669043-T-C
gnomAD v4:
3-187669043-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.187669043T>C , CM000665.2:g.187669043T>C | GRCh38 |
| NC_000003.11:g.187386831T>C , CM000665.1:g.187386831T>C | GRCh37 |
| NC_000003.10:g.188869525T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287641.4:c.*22A>G MANE Select | ENSP00000287641.3:n.*22A>G | |
| ENST00000287641.3:c.*22A>G | ENSP00000287641.3:n.*22A>G | |
| NM_001048.3:c.*22A>G | NP_001039.1:n.*22A>G | |
| NM_001048.4:c.*22A>G MANE Select | NP_001039.1:n.*22A>G |