Linked Data
gnomAD v4:
14-49633566-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49633566A>C , CM000676.2:g.49633566A>C | GRCh38 |
| NC_000014.8:g.50100284A>C , CM000676.1:g.50100284A>C | GRCh37 |
| NC_000014.7:g.49170034A>C | NCBI36 |
| NG_013070.1:g.6665T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298292.13:c.1584T>G MANE Select | ENSP00000298292.8:p.Asn528Lys | |
| ENST00000298292.12:c.1584T>G | ENSP00000298292.8:p.Asn528Lys | |
| ENST00000406043.3:c.1584T>G | ENSP00000384862.3:p.Asn528Lys | |
| NM_001083908.1:c.1584T>G | NP_001077377.1:p.Asn528Lys | |
| NM_018139.2:c.1584T>G | NP_060609.2:p.Asn528Lys | |
| NM_001083908.2:c.1584T>G | NP_001077377.1:p.Asn528Lys | |
| NM_001378453.1:c.-288T>G | NP_001365382.1:n.-288T>G | |
| NM_018139.3:c.1584T>G MANE Select | NP_060609.2:p.Asn528Lys |