Linked Data
dbSNP Id:
rs780603856
ExAC:
11:69462720 T / C
gnomAD v2:
11-69462720-T-C
gnomAD v4:
11-69647952-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69647952T>C , CM000673.2:g.69647952T>C | GRCh38 |
| NC_000011.9:g.69462720T>C , CM000673.1:g.69462720T>C | GRCh37 |
| NC_000011.8:g.69171901T>C | NCBI36 |
| NG_007375.1:g.11848T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.575-42T>C MANE Select | ENSP00000227507.2:n.575-42T>C | |
| ENST00000227507.2:c.575-42T>C | ENSP00000227507.2:n.575-42T>C | |
| ENST00000536559.1:c.199-42T>C | ENSP00000438482.1:n.199-42T>C | |
| ENST00000545484.1:n.281-42T>C | ||
| NM_053056.2:c.575-42T>C | NP_444284.1:n.575-42T>C | |
| XM_006718653.2:c.599-42T>C | XP_006718716.1:n.599-42T>C | |
| NM_053056.3:c.575-42T>C MANE Select | NP_444284.1:n.575-42T>C |