Linked Data
dbSNP Id:
rs771656169
gnomAD v2:
13-28498414-C-A
gnomAD v3:
13-27924277-C-A
gnomAD v4:
13-27924277-C-A
MyVariant Identifiers:
chr13:g.28498414C>A (hg19)
chr13:g.28498414_28498417delinsAGGA (hg19)
chr13:g.27924277C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924277C>A , CM000675.2:g.27924277C>A | GRCh38 |
| NC_000013.10:g.28498414C>A , CM000675.1:g.28498414C>A | GRCh37 |
| NC_000013.9:g.27396414C>A | NCBI36 |
| NG_008183.1:g.9247C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.428C>A MANE Select | ENSP00000370421.4:p.Pro143Gln | |
| ENST00000381033.4:c.428C>A | ENSP00000370421.4:p.Pro143Gln | |
| NM_000209.3:c.428C>A | NP_000200.1:p.Pro143Gln | |
| XR_941578.1:n.3555C>A | ||
| XR_941579.1:n.2154C>A | ||
| XR_941580.1:n.1070C>A | ||
| XR_941578.2:n.3567C>A | ||
| XR_941580.2:n.1082C>A | ||
| NM_000209.4:c.428C>A MANE Select | NP_000200.1:p.Pro143Gln |