Linked Data
dbSNP Id:
rs16901904
gnomAD v2:
8-128027502-T-C
gnomAD v3:
8-127015257-T-C
gnomAD v4:
8-127015257-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127015257T>C , CM000670.2:g.127015257T>C | GRCh38 |
| NC_000008.10:g.128027502T>C , CM000670.1:g.128027502T>C | GRCh37 |
| NC_000008.9:g.128096684T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_045262.1:n.621+1483T>C | ||
| NR_045262.2:n.621+1483T>C | ||
| XR_001746076.2:n.1364+8639T>C |