Linked Data
ClinVar Variation Id:
2125291
ClinVar RCV Id:
RCV003049501
dbSNP Id:
rs763511654
gnomAD v4:
1-154571422-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571422G>A , CM000663.2:g.154571422G>A | GRCh38 |
| NC_000001.10:g.154543898G>A , CM000663.1:g.154543898G>A | GRCh37 |
| NC_000001.9:g.152810522G>A | NCBI36 |
| NG_008027.1:g.8642G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.599G>A MANE Select | ENSP00000357461.3:p.Ser200Asn | |
| ENST00000636034.1:c.599G>A | ENSP00000489703.1:p.Ser200Asn | |
| ENST00000637900.1:c.605G>A | ENSP00000490474.1:p.Ser202Asn | |
| ENST00000368476.3:c.599G>A | ENSP00000357461.3:p.Ser200Asn | |
| NM_000748.2:c.599G>A | NP_000739.1:p.Ser200Asn | |
| XM_017000180.2:c.89G>A | XP_016855669.1:p.Ser30Asn | |
| XR_001736952.2:n.851G>A | ||
| NM_000748.3:c.599G>A MANE Select | NP_000739.1:p.Ser200Asn |