Linked Data
ClinVar Variation Id:
2970762
ClinVar RCV Id:
RCV003824464
dbSNP Id:
rs371572879
ExAC:
6:49580258 G / A
gnomAD v2:
6-49580258-G-A
gnomAD v3:
6-49612545-G-A
gnomAD v4:
6-49612545-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49612545G>A , CM000668.2:g.49612545G>A | GRCh38 |
| NC_000006.11:g.49580258G>A , CM000668.1:g.49580258G>A | GRCh37 |
| NC_000006.10:g.49688217G>A | NCBI36 |
| NG_011704.1:g.29330C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371175.10:c.808-11C>T MANE Select | ENSP00000360217.4:n.808-11C>T | |
| ENST00000646272.1:c.808-11C>T | ENSP00000494337.1:n.808-11C>T | |
| ENST00000646874.1:n.498-11C>T | ||
| ENST00000646939.1:c.808-11C>T | ENSP00000494709.1:n.808-11C>T | |
| ENST00000646963.1:c.808-11C>T | ENSP00000495337.1:n.808-11C>T | |
| ENST00000229810.9:c.808-11C>T | ENSP00000229810.8:n.808-11C>T | |
| ENST00000371175.8:c.808-11C>T | ENSP00000360217.4:n.808-11C>T | |
| ENST00000618248.3:c.808-11C>T | ENSP00000482984.1:n.808-11C>T | |
| NM_000324.2:c.808-11C>T | NP_000315.2:n.808-11C>T | |
| NM_000324.3:c.808-11C>T MANE Select | NP_000315.2:n.808-11C>T |