Linked Data
ClinVar Variation Id:
3047699
ClinVar RCV Id:
RCV003949625
dbSNP Id:
rs955353119
gnomAD v2:
7-27239131-T-C
gnomAD v3:
7-27199512-T-C
gnomAD v4:
7-27199512-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27199512T>C , CM000669.2:g.27199512T>C | GRCh38 |
| NC_000007.13:g.27239131T>C , CM000669.1:g.27239131T>C | GRCh37 |
| NC_000007.12:g.27205656T>C | NCBI36 |
| NG_008181.1:g.5595A>G | |
| NG_008181.2:g.5595A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649031.1:c.566A>G MANE Select | ENSP00000497112.1:p.Asn189Ser | |
| ENST00000222753.5:c.566A>G | ENSP00000222753.4:p.Asn189Ser | |
| NM_000522.4:c.566A>G | NP_000513.2:p.Asn189Ser | |
| XM_011515344.1:c.566A>G | XP_011513646.1:p.Asn189Ser | |
| NM_000522.5:c.566A>G MANE Select | NP_000513.2:p.Asn189Ser |