Linked Data
ClinVar Variation Id:
295200
dbSNP Id:
rs187379424
gnomAD v2:
1-209961354-G-A
gnomAD v3:
1-209788009-G-A
gnomAD v4:
1-209788009-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209788009G>A , CM000663.2:g.209788009G>A | GRCh38 |
| NC_000001.10:g.209961354G>A , CM000663.1:g.209961354G>A | GRCh37 |
| NC_000001.9:g.208027977G>A | NCBI36 |
| NG_007081.2:g.23126C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.1400+415C>T | ENSP00000512426.1:n.1400+415C>T | |
| ENST00000696134.1:c.*1242C>T | ENSP00000512427.1:n.*1242C>T | |
| ENST00000367021.8:c.*411C>T MANE Select | ENSP00000355988.3:n.*411C>T | |
| ENST00000367021.7:c.*411C>T | ENSP00000355988.3:n.*411C>T | |
| ENST00000542854.5:c.*411C>T | ENSP00000440532.1:n.*411C>T | |
| NM_001206696.1:c.*411C>T | NP_001193625.1:n.*411C>T | |
| NM_006147.3:c.*411C>T | NP_006138.1:n.*411C>T | |
| NM_006147.4:c.*411C>T MANE Select | NP_006138.1:n.*411C>T | |
| NM_001206696.2:c.*411C>T | NP_001193625.1:n.*411C>T |