Linked Data
gnomAD v4:
2-29328286-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328286G>A , CM000664.2:g.29328286G>A | GRCh38 |
| NC_000002.11:g.29551152G>A , CM000664.1:g.29551152G>A | GRCh37 |
| NC_000002.10:g.29404656G>A | NCBI36 |
| NG_009445.1:g.598281C>T , LRG_488:g.598281C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1414+64C>T MANE Select | ENSP00000373700.3:n.1414+64C>T | |
| ENST00000389048.7:c.1414+64C>T | ENSP00000373700.3:n.1414+64C>T | |
| ENST00000618119.4:c.283+64C>T | ENSP00000482733.1:n.283+64C>T | |
| NM_004304.4:c.1414+64C>T | NP_004295.2:n.1414+64C>T | |
| XR_939920.1:n.693-99G>A | ||
| XR_939921.1:n.680+5758G>A | ||
| XR_001738688.2:n.2344+64C>T | ||
| XR_244977.4:n.1778G>A | ||
| XR_939920.2:n.583-99G>A | ||
| XR_939921.2:n.576+5758G>A | ||
| XR_939922.2:n.1818G>A | ||
| NM_004304.5:c.1414+64C>T MANE Select | NP_004295.2:n.1414+64C>T |