Linked Data
dbSNP Id:
rs975205184
gnomAD v4:
5-34008163-C-G
MyVariant Identifiers:
chr5:g.34008163C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34008163C>G , CM000667.2:g.34008163C>G | GRCh38 |
| NC_000005.9:g.34008268C>G , CM000667.1:g.34008268C>G | GRCh37 |
| NC_000005.8:g.34044025C>G | NCBI36 |
| NG_016211.1:g.4953G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382079.3:c.690-2264G>C | ENSP00000371511.3:n.690-2264G>C | |
| NR_037951.1:n.765-2264G>C |