Linked Data
ClinVar Variation Id:
16971
ClinVar RCV Id:
RCV000018488
dbSNP Id:
rs28399447
ExAC:
19:41352941 A / G
gnomAD v2:
19-41352941-A-G
gnomAD v3:
19-40847036-A-G
gnomAD v4:
19-40847036-A-G
PubMed:
PMID:12042667
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40847036A>G , CM000681.2:g.40847036A>G | GRCh38 |
| NC_000019.9:g.41352941A>G , CM000681.1:g.41352941A>G | GRCh37 |
| NC_000019.8:g.46044781A>G | NCBI36 |
| NG_008377.1:g.8412T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301141.10:c.670T>C MANE Select | ENSP00000301141.4:p.Ser224Pro | |
| ENST00000301141.9:c.670T>C | ENSP00000301141.4:p.Ser224Pro | |
| ENST00000596719.5:n.521T>C | ||
| ENST00000600495.1:c.*482T>C | ENSP00000472905.1:n.*482T>C | |
| ENST00000601627.1:c.120-44955A>G | ||
| ENST00000610301.1:c.670T>C | ENSP00000477899.1:p.Ser224Pro | |
| NM_000762.5:c.670T>C | NP_000753.3:p.Ser224Pro | |
| NM_000762.6:c.670T>C MANE Select | NP_000753.3:p.Ser224Pro |