Linked Data
dbSNP Id:
rs781658713
ExAC:
4:89421039 T / C
gnomAD v2:
4-89421039-T-C
gnomAD v4:
4-88499888-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88499888T>C , CM000666.2:g.88499888T>C | GRCh38 |
| NC_000004.11:g.89421039T>C , CM000666.1:g.89421039T>C | GRCh37 |
| NC_000004.10:g.89640062T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264350.8:c.2445-38T>C MANE Select | ENSP00000264350.3:n.2445-38T>C | |
| ENST00000264350.7:c.2445-38T>C | ENSP00000264350.3:n.2445-38T>C | |
| ENST00000502913.1:n.1166-38T>C | ||
| ENST00000508159.1:c.1359-38T>C | ENSP00000424129.1:n.1359-38T>C | |
| ENST00000510223.5:n.1933-38T>C | ||
| NM_016323.3:c.2445-38T>C | NP_057407.2:n.2445-38T>C | |
| XM_011532022.1:c.2220-38T>C | XP_011530324.1:n.2220-38T>C | |
| XM_011532023.1:c.2157-38T>C | XP_011530325.1:n.2157-38T>C | |
| XM_011532022.2:c.2673-38T>C | XP_011530324.2:n.2673-38T>C | |
| NM_016323.4:c.2445-38T>C MANE Select | NP_057407.2:n.2445-38T>C |