Linked Data
ClinVar Variation Id:
66135
ClinVar RCV Id:
RCV000056436
dbSNP Id:
rs267607652
ExAC:
12:53344108 C / G
gnomAD v2:
12-53344108-C-G
gnomAD v3:
12-52950324-C-G
gnomAD v4:
12-52950324-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52950324C>G , CM000674.2:g.52950324C>G | GRCh38 |
| NC_000012.11:g.53344108C>G , CM000674.1:g.53344108C>G | GRCh37 |
| NC_000012.10:g.51630375C>G | NCBI36 |
| NG_008351.1:g.6454C>G | |
| NG_008402.2:g.4543G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388835.4:c.418-4C>G MANE Select | ENSP00000373487.3:n.418-4C>G | |
| ENST00000388835.3:c.418-4C>G | ENSP00000373487.3:n.418-4C>G | |
| ENST00000388837.6:c.418-4C>G | ENSP00000373489.2:n.418-4C>G | |
| ENST00000548015.1:n.520C>G | ||
| ENST00000549078.5:n.465-4C>G | ||
| ENST00000550600.5:c.418-4C>G | ENSP00000447278.1:n.418-4C>G | |
| NM_000224.2:c.418-4C>G | NP_000215.1:n.418-4C>G | |
| NM_199187.1:c.418-4C>G | NP_954657.1:n.418-4C>G | |
| NM_000224.3:c.418-4C>G MANE Select | NP_000215.1:n.418-4C>G | |
| NM_199187.2:c.418-4C>G | NP_954657.1:n.418-4C>G |