Linked Data
ClinVar Variation Id:
798457
ClinVar RCV Id:
RCV001470708
dbSNP Id:
rs1228635169
gnomAD v2:
7-128485272-T-C
gnomAD v4:
7-128845218-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128845218T>C , CM000669.2:g.128845218T>C | GRCh38 |
| NC_000007.13:g.128485272T>C , CM000669.1:g.128485272T>C | GRCh37 |
| NC_000007.12:g.128272508T>C | NCBI36 |
| NG_011807.1:g.19790T>C , LRG_870:g.19790T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.3753T>C MANE Select | ENSP00000327145.8:p.Ser1251= | |
| ENST00000325888.12:c.3753T>C | ENSP00000327145.8:p.Ser1251= | |
| ENST00000346177.6:c.3753T>C | ENSP00000344002.6:p.Ser1251= | |
| NM_001127487.1:c.3753T>C | NP_001120959.1:p.Ser1251= | |
| NM_001458.4:c.3753T>C , LRG_870t1:c.3753T>C | NP_001449.3:p.Ser1251= | |
| NM_001127487.2:c.3753T>C | NP_001120959.1:p.Ser1251= | |
| NM_001458.5:c.3753T>C MANE Select | NP_001449.3:p.Ser1251= |