Linked Data
ClinVar Variation Id:
253040
ClinVar RCV Id:
RCV000239520
dbSNP Id:
rs755948940
ExAC:
16:88721629 T / C
gnomAD v2:
16-88721629-T-C
gnomAD v3:
16-88655221-T-C
gnomAD v4:
16-88655221-T-C
PubMed:
PMID:26202976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88655221T>C , CM000678.2:g.88655221T>C | GRCh38 |
| NC_000016.9:g.88721629T>C , CM000678.1:g.88721629T>C | GRCh37 |
| NC_000016.8:g.87249130T>C | NCBI36 |
| NG_007291.1:g.829A>G , LRG_52:g.829A>G | |
| NG_052674.1:g.12933A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301012.8:c.875A>G MANE Select | ENSP00000301012.3:p.Asn292Ser | |
| ENST00000301012.7:c.875A>G | ENSP00000301012.3:p.Asn292Ser | |
| ENST00000565149.5:n.1434A>G | ||
| ENST00000620002.4:c.358A>G | ENSP00000479264.1:p.Thr120Ala | |
| NM_002461.2:c.875A>G | NP_002452.1:p.Asn292Ser | |
| XM_011523086.1:c.977A>G | XP_011521388.1:p.Asn326Ser | |
| XM_011523087.1:c.914A>G | XP_011521389.1:p.Asn305Ser | |
| XM_011523088.1:c.812A>G | XP_011521390.1:p.Asn271Ser | |
| XM_011523089.1:c.524A>G | XP_011521391.1:p.Asn175Ser | |
| XM_011523086.2:c.977A>G | XP_011521388.1:p.Asn326Ser | |
| XM_011523087.2:c.914A>G | XP_011521389.1:p.Asn305Ser | |
| XM_011523088.2:c.812A>G | XP_011521390.1:p.Asn271Ser | |
| XM_011523089.2:c.524A>G | XP_011521391.1:p.Asn175Ser | |
| NM_002461.3:c.875A>G MANE Select | NP_002452.1:p.Asn292Ser |