Linked Data
dbSNP Id:
rs1790349
gnomAD v2:
11-71142350-T-C
gnomAD v3:
11-71431304-T-C
gnomAD v4:
11-71431304-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71431304T>C , CM000673.2:g.71431304T>C | GRCh38 |
| NC_000011.9:g.71142350T>C , CM000673.1:g.71142350T>C | GRCh37 |
| NC_000011.8:g.70819998T>C | NCBI36 |
| NG_012655.2:g.22128A>G , LRG_340:g.22128A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000534795.5:c.320-2452A>G |