Linked Data
dbSNP Id:
rs763504654
ExAC:
1:116226607 C / A
gnomAD v2:
1-116226607-C-A
gnomAD v4:
1-115683986-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115683986C>A , CM000663.2:g.115683986C>A | GRCh38 |
| NC_000001.10:g.116226607C>A , CM000663.1:g.116226607C>A | GRCh37 |
| NC_000001.9:g.116028130C>A | NCBI36 |
| NG_016548.1:g.47034C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355485.7:c.989C>A MANE Select | ENSP00000347672.2:p.Ala330Asp | |
| ENST00000310260.7:c.989C>A | ENSP00000310800.3:p.Ala330Asp | |
| ENST00000355485.6:c.989C>A | ENSP00000347672.2:p.Ala330Asp | |
| ENST00000369509.1:c.989C>A | ENSP00000358522.1:p.Ala330Asp | |
| ENST00000369510.8:c.983C>A | ENSP00000358523.3:p.Ala328Asp | |
| ENST00000474344.1:n.371C>A | ||
| ENST00000478369.5:n.273C>A | ||
| NM_001172411.1:c.983C>A | NP_001165882.1:p.Ala328Asp | |
| NM_001172412.1:c.989C>A | NP_001165883.1:p.Ala330Asp | |
| NM_138959.2:c.989C>A | NP_620409.1:p.Ala330Asp | |
| NM_138959.3:c.989C>A MANE Select | NP_620409.1:p.Ala330Asp | |
| NM_001172411.2:c.983C>A | NP_001165882.1:p.Ala328Asp | |
| NM_001172412.2:c.989C>A | NP_001165883.1:p.Ala330Asp |