Linked Data
ClinVar Variation Id:
531993
ClinVar RCV Id:
RCV000638549
dbSNP Id:
rs753529606
ExAC:
8:126087346 C / T
gnomAD v2:
8-126087346-C-T
gnomAD v4:
8-125075104-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125075104C>T , CM000670.2:g.125075104C>T | GRCh38 |
| NC_000008.10:g.126087346C>T , CM000670.1:g.126087346C>T | GRCh37 |
| NC_000008.9:g.126156528C>T | NCBI36 |
| NG_012636.1:g.21716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318410.12:c.872G>A MANE Select | ENSP00000318016.7:p.Ser291Asn | |
| ENST00000318410.11:c.872G>A | ENSP00000318016.7:p.Ser291Asn | |
| ENST00000517845.5:c.428G>A | ENSP00000429676.1:p.Ser143Asn | |
| ENST00000523297.5:c.428G>A | ENSP00000427946.1:p.Ser143Asn | |
| NM_014846.3:c.872G>A | NP_055661.3:p.Ser291Asn | |
| XM_005251120.2:c.428G>A | XP_005251177.1:p.Ser143Asn | |
| XM_011517409.1:c.872G>A | XP_011515711.1:p.Ser291Asn | |
| XM_011517410.1:c.872G>A | XP_011515712.1:p.Ser291Asn | |
| NM_001330609.1:c.428G>A | NP_001317538.1:p.Ser143Asn | |
| XM_017014113.2:c.872G>A | XP_016869602.1:p.Ser291Asn | |
| NM_014846.4:c.872G>A MANE Select | NP_055661.3:p.Ser291Asn | |
| NM_001330609.2:c.428G>A | NP_001317538.1:p.Ser143Asn |