Linked Data
dbSNP Id:
rs13389219
gnomAD v2:
2-165528876-C-T
gnomAD v3:
2-164672366-C-T
gnomAD v4:
2-164672366-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.164672366C>T , CM000664.2:g.164672366C>T | GRCh38 |
| NC_000002.11:g.165528876C>T , CM000664.1:g.165528876C>T | GRCh37 |
| NC_000002.10:g.165237122C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000495084.1:n.127-6465G>A | ||
| NM_001365671.1:c.3478-6465G>A | NP_001352600.1:n.3478-6465G>A |