Linked Data
dbSNP Id:
rs76084988
gnomAD v2:
11-202954-A-C
gnomAD v3:
11-202954-A-C
gnomAD v4:
11-202954-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.202954A>C , CM000673.2:g.202954A>C | GRCh38 |
| NC_000011.9:g.202954A>C , CM000673.1:g.202954A>C | GRCh37 |
| NC_000011.8:g.192954A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382762.8:c.*2348T>G MANE Select | ENSP00000372210.3:n.*2348T>G | |
| ENST00000325147.13:c.*2516T>G | ENSP00000339093.7:n.*2516T>G | |
| ENST00000382762.7:c.*2348T>G | ENSP00000372210.3:n.*2348T>G | |
| ENST00000410108.5:c.168+2657T>G | ENSP00000386558.1:n.168+2657T>G | |
| NM_001098787.1:c.*2348T>G | NP_001092257.1:n.*2348T>G | |
| NM_016526.4:c.*2516T>G | NP_057610.2:n.*2516T>G | |
| NM_001098787.2:c.*2348T>G MANE Select | NP_001092257.1:n.*2348T>G | |
| NM_016526.5:c.*2516T>G | NP_057610.2:n.*2516T>G |