Canonical Allele Identifier:
CA13952047
Gene:
Linked Data
dbSNP Id:
rs2498801
gnomAD v2:
14-105235558-T-C
gnomAD v3:
14-104769221-T-C
gnomAD v4:
14-104769221-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104769221T>C , CM000676.2:g.104769221T>C | GRCh38 |
| NC_000014.8:g.105235558T>C , CM000676.1:g.105235558T>C | GRCh37 |
| NC_000014.7:g.104306603T>C | NCBI36 |
| NG_012188.1:g.31524A>G , LRG_721:g.31524A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_429419.2:n.871T>C | ||
| XR_429419.4:n.2106T>C |