Linked Data
dbSNP Id:
rs374258831
gnomAD v2:
19-39738810-C-T
gnomAD v3:
19-39248170-C-T
gnomAD v4:
19-39248170-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39248170C>T , CM000681.2:g.39248170C>T | GRCh38 |
| NC_000019.9:g.39738810C>T , CM000681.1:g.39738810C>T | GRCh37 |
| NC_000019.8:g.44430650C>T | NCBI36 |
| NG_042193.1:g.1802G>A | |
| NG_055295.1:g.5687G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000606380.2:c.152-175G>A | ENSP00000476098.1:n.152-175G>A | |
| ENST00000610963.1:c.151-175G>A | ENSP00000481371.1:n.151-175G>A | |
| ENST00000616270.4:c.152-175G>A | ENSP00000480679.1:n.152-175G>A | |
| ENST00000634680.1:c.151+259G>A | ENSP00000489240.1:n.151+259G>A | |
| ENST00000634967.1:c.152-175G>A | ENSP00000489559.1:n.152-175G>A | |
| NR_074079.1:n.429-175G>A |