Linked Data
gnomAD v4:
2-20005717-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20005717G>T , CM000664.2:g.20005717G>T | GRCh38 |
| NC_000002.11:g.20205478G>T , CM000664.1:g.20205478G>T | GRCh37 |
| NC_000002.10:g.20068959G>T | NCBI36 |
| NG_008087.1:g.11978C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.790+27C>A MANE Select | ENSP00000383894.3:n.790+27C>A | |
| ENST00000407540.7:c.790+27C>A | ENSP00000383894.3:n.790+27C>A | |
| ENST00000421259.2:c.790+27C>A | ENSP00000398753.2:n.790+27C>A | |
| NM_002381.4:c.790+27C>A | NP_002372.1:n.790+27C>A | |
| NM_002381.5:c.790+27C>A MANE Select | NP_002372.1:n.790+27C>A |