Linked Data
ClinVar Variation Id:
311979
dbSNP Id:
rs184635412
ExAC:
13:39266138 C / G
gnomAD v2:
13-39266138-C-G
gnomAD v3:
13-38692001-C-G
gnomAD v4:
13-38692001-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38692001C>G , CM000675.2:g.38692001C>G | GRCh38 |
| NC_000013.10:g.39266138C>G , CM000675.1:g.39266138C>G | GRCh37 |
| NC_000013.9:g.38164138C>G | NCBI36 |
| NG_008125.2:g.9966C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280481.9:c.4657C>G MANE Select | ENSP00000280481.7:p.Pro1553Ala | |
| ENST00000280481.8:c.4657C>G | ENSP00000280481.7:p.Pro1553Ala | |
| NM_207361.5:c.4657C>G | NP_997244.4:p.Pro1553Ala | |
| XM_011535057.1:c.4657C>G | XP_011533359.1:p.Pro1553Ala | |
| XR_941571.1:n.4965C>G | ||
| XM_017020554.1:c.4657C>G | XP_016876043.1:p.Pro1553Ala | |
| XR_941571.2:n.4961C>G | ||
| NM_207361.6:c.4657C>G MANE Select | NP_997244.4:p.Pro1553Ala |