Linked Data
dbSNP Id:
rs3734693
gnomAD v2:
6-43965165-T-C
gnomAD v3:
6-43997428-T-C
gnomAD v4:
6-43997428-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43997428T>C , CM000668.2:g.43997428T>C | GRCh38 |
| NC_000006.11:g.43965165T>C , CM000668.1:g.43965165T>C | GRCh37 |
| NC_000006.10:g.44073143T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_125864.1:n.647-120A>G (SCIRT) | ||
| NR_125865.1:n.431-120A>G (SCIRT) | ||
| NM_001318876.2:c.946-444462T>C (POLR1C) | NP_001305805.1:n.946-444462T>C |