Linked Data
dbSNP Id:
rs1020786498
gnomAD v2:
5-156537530-G-A
gnomAD v3:
5-157110519-G-A
gnomAD v4:
5-157110519-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157110519G>A , CM000667.2:g.157110519G>A | GRCh38 |
| NC_000005.9:g.156537530G>A , CM000667.1:g.156537530G>A | GRCh37 |
| NC_000005.8:g.156470108G>A | NCBI36 |
| NG_030444.1:g.3719C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-3557C>T | ENSP00000430328.2:n.-293-3557C>T | |
| ENST00000696899.1:c.-264-1272C>T | ENSP00000512960.1:n.-264-1272C>T | |
| ENST00000524219.1:c.-293-3557C>T | ENSP00000430328.1:n.-293-3557C>T |