Linked Data
dbSNP Id:
rs4646299
gnomAD v2:
5-131705320-G-T
gnomAD v3:
5-132369628-G-T
gnomAD v4:
5-132369628-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132369628G>T , CM000667.2:g.132369628G>T | GRCh38 |
| NC_000005.9:g.131705320G>T , CM000667.1:g.131705320G>T | GRCh37 |
| NC_000005.8:g.131733219G>T | NCBI36 |
| NG_008982.1:g.4920G>T | |
| NG_008982.2:g.4925G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110997.1:n.73+216C>A |