Linked Data
gnomAD v4:
14-24256037-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256037C>G , CM000676.2:g.24256037C>G | GRCh38 |
| NC_000014.8:g.24725243C>G , CM000676.1:g.24725243C>G | GRCh37 |
| NC_000014.7:g.23795083C>G | NCBI36 |
| NG_007150.1:g.12130G>C | |
| NG_007150.2:g.12130G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1443G>C MANE Select | ENSP00000206765.6:p.Lys481Asn | |
| ENST00000206765.10:c.1443G>C | ENSP00000206765.6:p.Lys481Asn | |
| ENST00000544573.5:c.117G>C | ENSP00000439446.1:p.Lys39Asn | |
| ENST00000559136.1:c.516G>C | ENSP00000453337.1:p.Lys172Asn | |
| NM_000359.2:c.1443G>C | NP_000350.1:p.Lys481Asn | |
| NM_000359.3:c.1443G>C MANE Select | NP_000350.1:p.Lys481Asn |