Linked Data
dbSNP Id:
rs140987540
gnomAD v2:
10-101605607-C-T
gnomAD v3:
10-99845850-C-T
gnomAD v4:
10-99845850-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845850C>T , CM000672.2:g.99845850C>T | GRCh38 |
| NC_000010.10:g.101605607C>T , CM000672.1:g.101605607C>T | GRCh37 |
| NC_000010.9:g.101595597C>T | NCBI36 |
| NG_011798.1:g.68145C>T | |
| NG_011798.2:g.68253C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.4146+68C>T MANE Select | ENSP00000497274.1:n.4146+68C>T | |
| ENST00000648523.1:c.34+68C>T | ||
| ENST00000649459.1:n.494+68C>T | ||
| ENST00000370449.8:c.4146+68C>T | ENSP00000359478.4:n.4146+68C>T | |
| NM_000392.4:c.4146+68C>T | NP_000383.1:n.4146+68C>T | |
| XM_006717630.2:c.3450+68C>T | XP_006717693.1:n.3450+68C>T | |
| XR_945604.1:n.4276+68C>T | ||
| XR_945605.1:n.4210+68C>T | ||
| NM_000392.5:c.4146+68C>T MANE Select | NP_000383.2:n.4146+68C>T | |
| XM_006717630.3:c.3450+68C>T | XP_006717693.1:n.3450+68C>T | |
| XR_945604.3:n.4330+68C>T | ||
| XR_945605.3:n.4262+68C>T |