Linked Data
ClinVar Variation Id:
3131940
ClinVar RCV Id:
RCV004418799
dbSNP Id:
rs764873967
ExAC:
15:67524181 T / C
gnomAD v2:
15-67524181-T-C
gnomAD v3:
15-67231843-T-C
gnomAD v4:
15-67231843-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67231843T>C , CM000677.2:g.67231843T>C | GRCh38 |
| NC_000015.9:g.67524181T>C , CM000677.1:g.67524181T>C | GRCh37 |
| NC_000015.8:g.65311235T>C | NCBI36 |
| NG_033007.1:g.28356A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261880.10:c.506A>G MANE Select | ENSP00000261880.5:p.Asn169Ser | |
| ENST00000261880.9:c.506A>G | ENSP00000261880.5:p.Asn169Ser | |
| ENST00000542650.5:c.179A>G | ENSP00000440735.1:p.Asn60Ser | |
| ENST00000558725.5:n.529A>G | ||
| ENST00000561452.5:c.179A>G | ENSP00000453263.1:p.Asn60Ser | |
| NM_001271885.1:c.179A>G | NP_001258814.1:p.Asn60Ser | |
| NM_001271886.1:c.179A>G | NP_001258815.1:p.Asn60Ser | |
| NM_024666.4:c.506A>G | NP_078942.3:p.Asn169Ser | |
| XM_005254664.2:c.506A>G | XP_005254721.1:p.Asn169Ser | |
| XM_006720683.2:c.506A>G | XP_006720746.1:p.Asn169Ser | |
| XM_011522020.1:c.179A>G | XP_011520322.1:p.Asn60Ser | |
| XM_024450052.1:c.506A>G | XP_024305820.1:p.Asn169Ser | |
| XM_024450053.1:c.506A>G | XP_024305821.1:p.Asn169Ser | |
| NM_024666.5:c.506A>G MANE Select | NP_078942.3:p.Asn169Ser | |
| NM_001271885.2:c.179A>G | NP_001258814.1:p.Asn60Ser | |
| NM_001271886.2:c.179A>G | NP_001258815.1:p.Asn60Ser |