Linked Data
ClinVar Variation Id:
251505
dbSNP Id:
rs879254709
gnomAD v2:
19-11218139-A-C
gnomAD v3:
19-11107463-A-C
gnomAD v4:
19-11107463-A-C
ERepo:
CA10585178/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11107463A>C , CM000681.2:g.11107463A>C | GRCh38 |
| NC_000019.9:g.11218139A>C , CM000681.1:g.11218139A>C | GRCh37 |
| NC_000019.8:g.11079139A>C | NCBI36 |
| NG_009060.1:g.23083A>C , LRG_274:g.23083A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.1147A>C | ENSP00000252444.6:p.Asn383His | |
| ENST00000559340.2:c.889A>C | ENSP00000453696.2:p.Asn297His | |
| ENST00000560467.2:c.889A>C | ENSP00000453513.2:p.Asn297His | |
| ENST00000558518.6:c.889A>C MANE Select | ENSP00000454071.1:p.Asn297His | |
| ENST00000252444.9:c.1143A>C | ||
| ENST00000455727.6:c.385A>C | ENSP00000397829.2:p.Asn129His | |
| ENST00000535915.5:c.766A>C | ENSP00000440520.1:p.Asn256His | |
| ENST00000545707.5:c.508A>C | ENSP00000437639.1:p.Asn170His | |
| ENST00000557933.5:c.889A>C | ENSP00000453557.1:p.Asn297His | |
| ENST00000558013.5:c.889A>C | ENSP00000453346.1:p.Asn297His | |
| ENST00000558518.5:c.889A>C | ENSP00000454071.1:p.Asn297His | |
| ENST00000558528.1:n.404A>C | ||
| ENST00000560467.1:c.489A>C | ||
| NM_000527.4:c.889A>C , LRG_274t1:c.889A>C | NP_000518.1:p.Asn297His | |
| NM_001195798.1:c.889A>C | NP_001182727.1:p.Asn297His | |
| NM_001195799.1:c.766A>C | NP_001182728.1:p.Asn256His | |
| NM_001195800.1:c.385A>C | NP_001182729.1:p.Asn129His | |
| NM_001195803.1:c.508A>C | NP_001182732.1:p.Asn170His | |
| XM_011528010.1:c.889A>C | XP_011526312.1:p.Asn297His | |
| XM_011528011.1:c.508A>C | XP_011526313.1:p.Asn170His | |
| XR_244074.2:n.1039A>C | ||
| XM_011528010.2:c.889A>C | XP_011526312.1:p.Asn297His | |
| XR_001753685.2:n.1006A>C | ||
| XR_001753686.2:n.1006A>C | ||
| NM_000527.5:c.889A>C MANE Select | NP_000518.1:p.Asn297His | |
| NM_001195798.2:c.889A>C | NP_001182727.1:p.Asn297His | |
| NM_001195799.2:c.766A>C | NP_001182728.1:p.Asn256His | |
| NM_001195800.2:c.385A>C | NP_001182729.1:p.Asn129His | |
| NM_001195803.2:c.508A>C | NP_001182732.1:p.Asn170His |