Linked Data
dbSNP Id:
rs13431652
gnomAD v2:
2-169753415-T-C
gnomAD v3:
2-168896905-T-C
gnomAD v4:
2-168896905-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168896905T>C , CM000664.2:g.168896905T>C | GRCh38 |
| NC_000002.11:g.169753415T>C , CM000664.1:g.169753415T>C | GRCh37 |
| NC_000002.10:g.169461661T>C | NCBI36 |
| NG_011682.1:g.666T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000451987.5:c.-172-6219A>G | ENSP00000393322.1:n.-172-6219A>G | |
| ENST00000472216.2:n.177-6219A>G |