Linked Data
dbSNP Id:
rs774992703
ExAC:
10:96741056 G / A
gnomAD v2:
10-96741056-G-A
gnomAD v3:
10-94981299-G-A
gnomAD v4:
10-94981299-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981299G>A , CM000672.2:g.94981299G>A | GRCh38 |
| NC_000010.10:g.96741056G>A , CM000672.1:g.96741056G>A | GRCh37 |
| NC_000010.9:g.96731046G>A | NCBI36 |
| NG_008385.1:g.47642G>A | |
| NG_008385.2:g.48142G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.1078G>A MANE Select | ENSP00000260682.6:p.Asp360Asn | |
| ENST00000643112.1:c.*87G>A | ENSP00000496202.1:n.*87G>A | |
| ENST00000260682.6:c.1078G>A | ENSP00000260682.6:p.Asp360Asn | |
| NM_000771.3:c.1078G>A | NP_000762.2:p.Asp360Asn | |
| NM_000771.4:c.1078G>A MANE Select | NP_000762.2:p.Asp360Asn |