Linked Data
ClinVar Variation Id:
311937
dbSNP Id:
rs767098305
ExAC:
13:39261816 A / G
gnomAD v2:
13-39261816-A-G
gnomAD v3:
13-38687679-A-G
gnomAD v4:
13-38687679-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38687679A>G , CM000675.2:g.38687679A>G | GRCh38 |
| NC_000013.10:g.39261816A>G , CM000675.1:g.39261816A>G | GRCh37 |
| NC_000013.9:g.38159816A>G | NCBI36 |
| NG_008125.2:g.5644A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280481.9:c.335A>G MANE Select | ENSP00000280481.7:p.Asn112Ser | |
| ENST00000280481.8:c.335A>G | ENSP00000280481.7:p.Asn112Ser | |
| NM_207361.5:c.335A>G | NP_997244.4:p.Asn112Ser | |
| XM_011535057.1:c.335A>G | XP_011533359.1:p.Asn112Ser | |
| XR_941571.1:n.643A>G | ||
| XM_017020554.1:c.335A>G | XP_016876043.1:p.Asn112Ser | |
| XR_941571.2:n.639A>G | ||
| NM_207361.6:c.335A>G MANE Select | NP_997244.4:p.Asn112Ser |