Linked Data
gnomAD v4:
1-229432082-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432082C>A , CM000663.2:g.229432082C>A | GRCh38 |
| NC_000001.10:g.229567829C>A , CM000663.1:g.229567829C>A | GRCh37 |
| NC_000001.9:g.227634452C>A | NCBI36 |
| NG_006672.1:g.7015G>T , LRG_429:g.7015G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.720G>T | ENSP00000355644.4:p.Lys240Asn | |
| ENST00000684723.1:c.585G>T | ENSP00000508084.1:p.Lys195Asn | |
| ENST00000366683.3:c.480-220G>T | ENSP00000355644.3:n.480-220G>T | |
| ENST00000366684.7:c.720G>T MANE Select | ENSP00000355645.3:p.Lys240Asn | |
| NM_001100.3:c.720G>T , LRG_429t1:c.720G>T | NP_001091.1:p.Lys240Asn | |
| NM_001100.4:c.720G>T MANE Select | NP_001091.1:p.Lys240Asn |