Linked Data
ClinVar Variation Id:
39075
ClinVar RCV Id:
RCV000032341
dbSNP Id:
rs281865019
gnomAD v4:
12-101753516-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753516T>C , CM000674.2:g.101753516T>C | GRCh38 |
| NC_000012.11:g.102147294T>C , CM000674.1:g.102147294T>C | GRCh37 |
| NC_000012.10:g.100671425T>C | NCBI36 |
| NG_021243.1:g.82352A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3458A>G MANE Select | ENSP00000299314.7:p.Asn1153Ser | |
| ENST00000299314.11:c.3458A>G | ENSP00000299314.7:p.Asn1153Ser | |
| ENST00000549738.5:c.356A>G | ENSP00000450161.1:n.356A>G | |
| NM_024312.4:c.3458A>G | NP_077288.2:p.Asn1153Ser | |
| XM_011538731.1:c.3377A>G | XP_011537033.1:p.Asn1126Ser | |
| XM_011538731.2:c.3377A>G | XP_011537033.1:p.Asn1126Ser | |
| XM_017019961.1:c.3242A>G | XP_016875450.1:p.Asn1081Ser | |
| XM_017019962.2:c.2231A>G | XP_016875451.1:p.Asn744Ser | |
| NM_024312.5:c.3458A>G MANE Select | NP_077288.2:p.Asn1153Ser |