Linked Data
dbSNP Id:
rs1317132003
gnomAD v2:
10-101605362-A-G
gnomAD v3:
10-99845605-A-G
gnomAD v4:
10-99845605-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845605A>G , CM000672.2:g.99845605A>G | GRCh38 |
| NC_000010.10:g.101605362A>G , CM000672.1:g.101605362A>G | GRCh37 |
| NC_000010.9:g.101595352A>G | NCBI36 |
| NG_011798.1:g.67900A>G | |
| NG_011798.2:g.68008A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3988-19A>G MANE Select | ENSP00000497274.1:n.3988-19A>G | |
| ENST00000649459.1:n.336-19A>G | ||
| ENST00000370449.8:c.3988-19A>G | ENSP00000359478.4:n.3988-19A>G | |
| NM_000392.4:c.3988-19A>G | NP_000383.1:n.3988-19A>G | |
| XM_006717630.2:c.3292-19A>G | XP_006717693.1:n.3292-19A>G | |
| XR_945604.1:n.4177-78A>G | ||
| XR_945605.1:n.4052-19A>G | ||
| NM_000392.5:c.3988-19A>G MANE Select | NP_000383.2:n.3988-19A>G | |
| XM_006717630.3:c.3292-19A>G | XP_006717693.1:n.3292-19A>G | |
| XR_945604.3:n.4231-78A>G | ||
| XR_945605.3:n.4104-19A>G |