Linked Data
ClinVar Variation Id:
1937894
ClinVar RCV Id:
RCV002642927
dbSNP Id:
rs1275995998
gnomAD v2:
12-52881892-G-A
gnomAD v3:
12-52488108-G-A
gnomAD v4:
12-52488108-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488108G>A , CM000674.2:g.52488108G>A | GRCh38 |
| NC_000012.11:g.52881892G>A , CM000674.1:g.52881892G>A | GRCh37 |
| NC_000012.10:g.51168159G>A | NCBI36 |
| NG_008298.1:g.10290C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1425-5C>T MANE Select | ENSP00000369317.3:n.1425-5C>T | |
| ENST00000330722.6:c.1425-5C>T | ENSP00000369317.3:n.1425-5C>T | |
| NM_005554.3:c.1425-5C>T | NP_005545.1:n.1425-5C>T | |
| NM_005554.4:c.1425-5C>T MANE Select | NP_005545.1:n.1425-5C>T |