Linked Data
gnomAD v4:
21-43776265-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43776265A>G , CM000683.2:g.43776265A>G | GRCh38 |
| NC_000021.8:g.45196146A>G , CM000683.1:g.45196146A>G | GRCh37 |
| NC_000021.7:g.44020574A>G | NCBI36 |
| NG_011545.1:g.5114T>C , LRG_485:g.5114T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.5T>C MANE Select | ENSP00000291568.6:p.Met2Thr | |
| ENST00000480147.3:n.4T>C | ||
| ENST00000640406.1:c.5T>C | ENSP00000492672.1:p.Met2Thr | |
| ENST00000675996.1:n.66T>C | ||
| ENST00000291568.5:c.5T>C | ENSP00000291568.5:p.Met2Thr | |
| ENST00000480147.1:n.42T>C | ||
| NM_000100.3:c.5T>C , LRG_485t1:c.5T>C | NP_000091.1:p.Met2Thr | |
| NM_000100.4:c.5T>C MANE Select | NP_000091.1:p.Met2Thr |