Linked Data
gnomAD v4:
2-135859183-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135859183G>T , CM000664.2:g.135859183G>T | GRCh38 |
| NC_000002.11:g.136616753G>T , CM000664.1:g.136616753G>T | GRCh37 |
| NC_000002.10:g.136333223G>T | NCBI36 |
| NG_008104.2:g.987C>A , LRG_338:g.987C>A | |
| NG_008958.1:g.22259C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264156.3:c.1362+118C>A MANE Select | ENSP00000264156.2:n.1362+118C>A | |
| ENST00000264156.2:c.1362+118C>A | ENSP00000264156.2:n.1362+118C>A | |
| ENST00000492091.1:n.181+3424C>A | ||
| NM_005915.5:c.1362+118C>A | NP_005906.2:n.1362+118C>A | |
| NM_005915.6:c.1362+118C>A MANE Select | NP_005906.2:n.1362+118C>A |