Linked Data
dbSNP Id:
rs778592657
ExAC:
10:101611307 A / C
gnomAD v2:
10-101611307-A-C
gnomAD v4:
10-99851550-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99851550A>C , CM000672.2:g.99851550A>C | GRCh38 |
| NC_000010.10:g.101611307A>C , CM000672.1:g.101611307A>C | GRCh37 |
| NC_000010.9:g.101601297A>C | NCBI36 |
| NG_011798.1:g.73845A>C | |
| NG_011798.2:g.73953A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.4557A>C MANE Select | ENSP00000497274.1:p.Glu1519Asp | |
| ENST00000648523.1:c.627A>C | ||
| ENST00000370449.8:c.4557A>C | ENSP00000359478.4:p.Glu1519Asp | |
| NM_000392.4:c.4557A>C | NP_000383.1:p.Glu1519Asp | |
| XM_006717630.2:c.3861A>C | XP_006717693.1:p.Glu1287Asp | |
| NM_000392.5:c.4557A>C MANE Select | NP_000383.2:p.Glu1519Asp | |
| XM_006717630.3:c.3861A>C | XP_006717693.1:p.Glu1287Asp |