Linked Data
dbSNP Id:
rs777522641
ExAC:
1:59042483 C / A
gnomAD v2:
1-59042483-C-A
gnomAD v4:
1-58576811-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576811C>A , CM000663.2:g.58576811C>A | GRCh38 |
| NC_000001.10:g.59042483C>A , CM000663.1:g.59042483C>A | GRCh37 |
| NC_000001.9:g.58815071C>A | NCBI36 |
| NG_016237.1:g.5684G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.346G>T MANE Select | ENSP00000360269.2:p.Ala116Ser | |
| ENST00000371225.3:c.346G>T | ENSP00000360269.2:p.Ala116Ser | |
| NM_002353.2:c.346G>T | NP_002344.2:p.Ala116Ser | |
| NM_002353.3:c.346G>T MANE Select | NP_002344.2:p.Ala116Ser |