Linked Data
dbSNP Id:
rs776277422
ExAC:
14:101349556 T / G
gnomAD v2:
14-101349556-T-G
gnomAD v4:
14-100883219-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883219T>G , CM000676.2:g.100883219T>G | GRCh38 |
| NC_000014.8:g.101349556T>G , CM000676.1:g.101349556T>G | GRCh37 |
| NC_000014.7:g.100419309T>G | NCBI36 |
| NG_045001.1:g.6629A>C | |
| NG_045000.5:g.51951T>G | |
| NG_045000.6:g.51951T>G | |
| NG_045001.2:g.25504A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1570A>C MANE Select | ENSP00000497482.1:p.Thr524Pro | |
| ENST00000534062.1:c.1570A>C | ENSP00000435342.1:p.Thr524Pro | |
| NM_001134888.2:c.1570A>C | NP_001128360.1:p.Thr524Pro | |
| NM_001134888.3:c.1570A>C MANE Select | NP_001128360.1:p.Thr524Pro |