Linked Data
gnomAD v4:
2-29328288-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328288G>T , CM000664.2:g.29328288G>T | GRCh38 |
| NC_000002.11:g.29551154G>T , CM000664.1:g.29551154G>T | GRCh37 |
| NC_000002.10:g.29404658G>T | NCBI36 |
| NG_009445.1:g.598279C>A , LRG_488:g.598279C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1414+62C>A MANE Select | ENSP00000373700.3:n.1414+62C>A | |
| ENST00000389048.7:c.1414+62C>A | ENSP00000373700.3:n.1414+62C>A | |
| ENST00000618119.4:c.283+62C>A | ENSP00000482733.1:n.283+62C>A | |
| NM_004304.4:c.1414+62C>A | NP_004295.2:n.1414+62C>A | |
| XR_939920.1:n.693-97G>T | ||
| XR_939921.1:n.680+5760G>T | ||
| XR_001738688.2:n.2344+62C>A | ||
| XR_244977.4:n.1780G>T | ||
| XR_939920.2:n.583-97G>T | ||
| XR_939921.2:n.576+5760G>T | ||
| XR_939922.2:n.1820G>T | ||
| NM_004304.5:c.1414+62C>A MANE Select | NP_004295.2:n.1414+62C>A |