Linked Data
dbSNP Id:
rs10053538
gnomAD v2:
5-156537510-C-A
gnomAD v3:
5-157110499-C-A
gnomAD v4:
5-157110499-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157110499C>A , CM000667.2:g.157110499C>A | GRCh38 |
| NC_000005.9:g.156537510C>A , CM000667.1:g.156537510C>A | GRCh37 |
| NC_000005.8:g.156470088C>A | NCBI36 |
| NG_030444.1:g.3739G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-3537G>T | ENSP00000430328.2:n.-293-3537G>T | |
| ENST00000696899.1:c.-264-1252G>T | ENSP00000512960.1:n.-264-1252G>T | |
| ENST00000524219.1:c.-293-3537G>T | ENSP00000430328.1:n.-293-3537G>T |