Linked Data
ClinVar Variation Id:
1901900
ClinVar RCV Id:
RCV002577320
dbSNP Id:
rs370436265
ExAC:
11:64699018 T / C
gnomAD v2:
11-64699018-T-C
gnomAD v3:
11-64931546-T-C
gnomAD v4:
11-64931546-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64931546T>C , CM000673.2:g.64931546T>C | GRCh38 |
| NC_000011.9:g.64699018T>C , CM000673.1:g.64699018T>C | GRCh37 |
| NC_000011.8:g.64455594T>C | NCBI36 |
| NG_046897.1:g.18994T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164133.7:c.946-13T>C MANE Select | ENSP00000164133.2:n.946-13T>C | |
| ENST00000164133.6:c.946-13T>C | ENSP00000164133.2:n.946-13T>C | |
| NM_006244.3:c.946-13T>C | NP_006235.1:n.946-13T>C | |
| XM_006718607.2:c.853-13T>C | XP_006718670.1:n.853-13T>C | |
| XM_011545132.1:c.859-13T>C | XP_011543434.1:n.859-13T>C | |
| XM_011545133.1:c.688-13T>C | XP_011543435.1:n.688-13T>C | |
| XM_011545134.1:c.688-13T>C | XP_011543436.1:n.688-13T>C | |
| XM_011545132.2:c.859-13T>C | XP_011543434.1:n.859-13T>C | |
| XM_011545134.3:c.688-13T>C | XP_011543436.1:n.688-13T>C | |
| NM_006244.4:c.946-13T>C MANE Select | NP_006235.1:n.946-13T>C |