Linked Data
dbSNP Id:
rs751475513
ExAC:
19:11221333 A / C
gnomAD v2:
19-11221333-A-C
gnomAD v4:
19-11110657-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11110657A>C , CM000681.2:g.11110657A>C | GRCh38 |
| NC_000019.9:g.11221333A>C , CM000681.1:g.11221333A>C | GRCh37 |
| NC_000019.8:g.11082333A>C | NCBI36 |
| NG_009060.1:g.26277A>C , LRG_274:g.26277A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1204A>C | ENSP00000252444.6:p.Asn402His | |
| ENST00000559340.2:c.946A>C | ENSP00000453696.2:p.Asn316His | |
| ENST00000560467.2:c.941-857A>C | ENSP00000453513.2:n.941-857A>C | |
| ENST00000558518.6:c.946A>C MANE Select | ENSP00000454071.1:p.Asn316His | |
| ENST00000252444.9:c.1200A>C | ||
| ENST00000455727.6:c.442A>C | ENSP00000397829.2:p.Asn148His | |
| ENST00000535915.5:c.823A>C | ENSP00000440520.1:p.Asn275His | |
| ENST00000545707.5:c.565A>C | ENSP00000437639.1:p.Asn189His | |
| ENST00000557933.5:c.946A>C | ENSP00000453557.1:p.Asn316His | |
| ENST00000558013.5:c.946A>C | ENSP00000453346.1:p.Asn316His | |
| ENST00000558518.5:c.946A>C | ENSP00000454071.1:p.Asn316His | |
| ENST00000560467.1:c.541-857A>C | ||
| NM_000527.4:c.946A>C , LRG_274t1:c.946A>C | NP_000518.1:p.Asn316His | |
| NM_001195798.1:c.946A>C | NP_001182727.1:p.Asn316His | |
| NM_001195799.1:c.823A>C | NP_001182728.1:p.Asn275His | |
| NM_001195800.1:c.442A>C | NP_001182729.1:p.Asn148His | |
| NM_001195803.1:c.565A>C | NP_001182732.1:p.Asn189His | |
| XM_011528010.1:c.946A>C | XP_011526312.1:p.Asn316His | |
| XM_011528011.1:c.565A>C | XP_011526313.1:p.Asn189His | |
| XR_244074.2:n.1096A>C | ||
| XM_011528010.2:c.946A>C | XP_011526312.1:p.Asn316His | |
| XR_001753685.2:n.1063A>C | ||
| XR_001753686.2:n.1063A>C | ||
| NM_000527.5:c.946A>C MANE Select | NP_000518.1:p.Asn316His | |
| NM_001195798.2:c.946A>C | NP_001182727.1:p.Asn316His | |
| NM_001195799.2:c.823A>C | NP_001182728.1:p.Asn275His | |
| NM_001195800.2:c.442A>C | NP_001182729.1:p.Asn148His | |
| NM_001195803.2:c.565A>C | NP_001182732.1:p.Asn189His |