Linked Data
dbSNP Id:
rs536214873
gnomAD v2:
14-74960249-C-T
gnomAD v3:
14-74493546-C-T
gnomAD v4:
14-74493546-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493546C>T , CM000676.2:g.74493546C>T | GRCh38 |
| NC_000014.8:g.74960249C>T , CM000676.1:g.74960249C>T | GRCh37 |
| NC_000014.7:g.74030002C>T | NCBI36 |
| NG_007117.1:g.4836G>A | |
| NG_033074.1:g.4827C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+24G>A | ENSP00000450887.1:n.-64+24G>A | |
| ENST00000556009.5:c.147+485G>A |