Linked Data
dbSNP Id:
rs773500249
ExAC:
8:37823741 C / T
gnomAD v2:
8-37823741-C-T
gnomAD v3:
8-37966223-C-T
gnomAD v4:
8-37966223-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966223C>T , CM000670.2:g.37966223C>T | GRCh38 |
| NC_000008.10:g.37823741C>T , CM000670.1:g.37823741C>T | GRCh37 |
| NC_000008.9:g.37942898C>T | NCBI36 |
| NG_011936.1:g.5444G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.247G>A MANE Select | ENSP00000343782.3:p.Asp83Asn | |
| ENST00000520341.2:n.375G>A | ||
| ENST00000345060.4:c.247G>A | ENSP00000343782.3:p.Asp83Asn | |
| ENST00000614635.1:c.247G>A | ENSP00000480325.1:p.Asp83Asn | |
| NM_000025.2:c.247G>A | NP_000016.1:p.Asp83Asn | |
| NM_000025.3:c.247G>A MANE Select | NP_000016.1:p.Asp83Asn |