Linked Data
dbSNP Id:
rs750800665
ExAC:
11:69462712 T / C
gnomAD v2:
11-69462712-T-C
gnomAD v4:
11-69647944-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69647944T>C , CM000673.2:g.69647944T>C | GRCh38 |
| NC_000011.9:g.69462712T>C , CM000673.1:g.69462712T>C | GRCh37 |
| NC_000011.8:g.69171893T>C | NCBI36 |
| NG_007375.1:g.11840T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.575-50T>C MANE Select | ENSP00000227507.2:n.575-50T>C | |
| ENST00000227507.2:c.575-50T>C | ENSP00000227507.2:n.575-50T>C | |
| ENST00000536559.1:c.199-50T>C | ENSP00000438482.1:n.199-50T>C | |
| ENST00000545484.1:n.281-50T>C | ||
| NM_053056.2:c.575-50T>C | NP_444284.1:n.575-50T>C | |
| XM_006718653.2:c.599-50T>C | XP_006718716.1:n.599-50T>C | |
| NM_053056.3:c.575-50T>C MANE Select | NP_444284.1:n.575-50T>C |