Linked Data
ClinVar Variation Id:
514493
dbSNP Id:
rs182873269
ExAC:
1:201019647 G / A
gnomAD v2:
1-201019647-G-A
gnomAD v3:
1-201050519-G-A
gnomAD v4:
1-201050519-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201050519G>A , CM000663.2:g.201050519G>A | GRCh38 |
| NC_000001.10:g.201019647G>A , CM000663.1:g.201019647G>A | GRCh37 |
| NC_000001.9:g.199286270G>A | NCBI36 |
| NG_009816.1:g.67048C>T | |
| NG_009816.2:g.67048C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.4114-3C>T MANE Select | ENSP00000355192.3:n.4114-3C>T | |
| ENST00000679417.1:c.*3277-3C>T | ENSP00000506706.1:n.*3277-3C>T | |
| ENST00000680051.1:n.1240-3C>T | ||
| ENST00000680059.1:c.*1632-3C>T | ENSP00000504944.1:n.*1632-3C>T | |
| ENST00000681078.1:c.4114-3C>T | ENSP00000506645.1:n.4114-3C>T | |
| ENST00000681190.1:c.*296-3C>T | ENSP00000506428.1:n.*296-3C>T | |
| ENST00000681874.1:c.4054-3C>T | ENSP00000505162.1:n.4054-3C>T | |
| ENST00000362061.3:c.4114-3C>T | ENSP00000355192.3:n.4114-3C>T | |
| ENST00000367338.7:c.4057-3C>T | ENSP00000356307.3:n.4057-3C>T | |
| NM_000069.2:c.4114-3C>T | NP_000060.2:n.4114-3C>T | |
| XM_005245478.2:c.4057-3C>T | XP_005245535.1:n.4057-3C>T | |
| XM_005245478.3:c.4057-3C>T | XP_005245535.1:n.4057-3C>T | |
| NM_000069.3:c.4114-3C>T MANE Select | NP_000060.2:n.4114-3C>T |