Linked Data
dbSNP Id:
rs746035793
ExAC:
10:96740946 T / C
gnomAD v2:
10-96740946-T-C
gnomAD v4:
10-94981189-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981189T>C , CM000672.2:g.94981189T>C | GRCh38 |
| NC_000010.10:g.96740946T>C , CM000672.1:g.96740946T>C | GRCh37 |
| NC_000010.9:g.96730936T>C | NCBI36 |
| NG_008385.1:g.47532T>C | |
| NG_008385.2:g.48032T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.968T>C MANE Select | ENSP00000260682.6:p.Val323Ala | |
| ENST00000643112.1:c.826T>C | ENSP00000496202.1:p.Ser276Pro | |
| ENST00000260682.6:c.968T>C | ENSP00000260682.6:p.Val323Ala | |
| NM_000771.3:c.968T>C | NP_000762.2:p.Val323Ala | |
| NM_000771.4:c.968T>C MANE Select | NP_000762.2:p.Val323Ala |