Linked Data
ClinVar Variation Id:
196343
dbSNP Id:
rs2241493
ExAC:
15:31362352 C / T
gnomAD v2:
15-31362352-C-T
gnomAD v3:
15-31070149-C-T
gnomAD v4:
15-31070149-C-T
MyVariant Identifiers:
chr15:g.31362352C>T (hg19)
chr15:g.31362352_31362355delinsTTTT (hg19)
chr15:g.31070149C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.31070149C>T , CM000677.2:g.31070149C>T | GRCh38 |
| NC_000015.9:g.31362352C>T , CM000677.1:g.31362352C>T | GRCh37 |
| NC_000015.8:g.29149644C>T | NCBI36 |
| NG_016453.1:g.36573G>A | |
| NG_016453.2:g.96125G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711434.1:c.95G>A | ENSP00000518752.1:p.Ser32Asn | |
| ENST00000397795.7:c.95G>A | ENSP00000380897.2:p.Ser32Asn | |
| ENST00000558445.6:c.212G>A | ENSP00000452946.2:p.Ser71Asn | |
| ENST00000559177.6:c.212G>A | ENSP00000453477.2:p.Ser71Asn | |
| ENST00000559179.2:c.95G>A | ENSP00000453851.1:p.Ser32Asn | |
| ENST00000256552.11:c.161G>A MANE Select | ENSP00000256552.7:p.Ser54Asn | |
| ENST00000256552.10:c.161G>A | ENSP00000256552.6:p.Ser54Asn | |
| ENST00000397795.6:c.95G>A | ENSP00000380897.2:p.Ser32Asn | |
| ENST00000542188.5:c.212G>A | ENSP00000437849.1:p.Ser71Asn | |
| ENST00000558445.5:c.95G>A | ENSP00000452946.1:p.Ser32Asn | |
| ENST00000559177.5:c.95G>A | ENSP00000453477.1:p.Ser32Asn | |
| ENST00000559179.1:c.95G>A | ENSP00000453851.1:p.Ser32Asn | |
| ENST00000560658.5:c.95G>A | ENSP00000454077.1:p.Ser32Asn | |
| NM_001252020.1:c.212G>A | NP_001238949.1:p.Ser71Asn | |
| NM_001252024.1:c.161G>A | NP_001238953.1:p.Ser54Asn | |
| NM_001252030.1:c.95G>A | NP_001238959.1:p.Ser32Asn | |
| NM_002420.5:c.95G>A | NP_002411.3:p.Ser32Asn | |
| NM_001252024.2:c.161G>A MANE Select | NP_001238953.1:p.Ser54Asn | |
| NM_001252030.2:c.95G>A | NP_001238959.1:p.Ser32Asn | |
| NM_002420.6:c.95G>A | NP_002411.3:p.Ser32Asn | |
| NM_001252020.2:c.212G>A | NP_001238949.1:p.Ser71Asn |