Linked Data
ClinVar Variation Id:
295199
dbSNP Id:
rs17317411
gnomAD v2:
1-209961314-T-C
gnomAD v3:
1-209787969-T-C
gnomAD v4:
1-209787969-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209787969T>C , CM000663.2:g.209787969T>C | GRCh38 |
| NC_000001.10:g.209961314T>C , CM000663.1:g.209961314T>C | GRCh37 |
| NC_000001.9:g.208027937T>C | NCBI36 |
| NG_007081.2:g.23166A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.1400+455A>G | ENSP00000512426.1:n.1400+455A>G | |
| ENST00000696134.1:c.*1282A>G | ENSP00000512427.1:n.*1282A>G | |
| ENST00000367021.8:c.*451A>G MANE Select | ENSP00000355988.3:n.*451A>G | |
| ENST00000367021.7:c.*451A>G | ENSP00000355988.3:n.*451A>G | |
| ENST00000542854.5:c.*451A>G | ENSP00000440532.1:n.*451A>G | |
| NM_001206696.1:c.*451A>G | NP_001193625.1:n.*451A>G | |
| NM_006147.3:c.*451A>G | NP_006138.1:n.*451A>G | |
| NM_006147.4:c.*451A>G MANE Select | NP_006138.1:n.*451A>G | |
| NM_001206696.2:c.*451A>G | NP_001193625.1:n.*451A>G |