Linked Data
ClinVar Variation Id:
1990142
ClinVar RCV Id:
RCV002800735
dbSNP Id:
rs768604047
ExAC:
7:21856263 A / C
gnomAD v2:
7-21856263-A-C
gnomAD v3:
7-21816645-A-C
gnomAD v4:
7-21816645-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21816645A>C , CM000669.2:g.21816645A>C | GRCh38 |
| NC_000007.13:g.21856263A>C , CM000669.1:g.21856263A>C | GRCh37 |
| NC_000007.12:g.21822788A>C | NCBI36 |
| NG_012886.2:g.278431A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10511A>C MANE Select | ENSP00000475939.1:p.Lys3504Thr | |
| ENST00000328843.10:c.10532A>C | ENSP00000330671.7:p.Lys3511Thr | |
| ENST00000409508.7:c.10511A>C | ENSP00000475939.1:p.Lys3504Thr | |
| ENST00000620169.4:c.10532A>C | ENSP00000481693.1:p.Lys3511Thr | |
| NM_001277115.1:c.10511A>C | NP_001264044.1:p.Lys3504Thr | |
| NM_001277115.2:c.10511A>C MANE Select | NP_001264044.1:p.Lys3504Thr |