Linked Data
ClinVar Variation Id:
695689
ClinVar RCV Id:
RCV000861550
dbSNP Id:
rs141819241
ExAC:
10:16957918 G / A
gnomAD v2:
10-16957918-G-A
gnomAD v3:
10-16915919-G-A
gnomAD v4:
10-16915919-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16915919G>A , CM000672.2:g.16915919G>A | GRCh38 |
| NC_000010.10:g.16957918G>A , CM000672.1:g.16957918G>A | GRCh37 |
| NC_000010.9:g.16997924G>A | NCBI36 |
| NG_008967.1:g.218899C>T , LRG_540:g.218899C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.7112C>T MANE Select | ENSP00000367064.4:p.Ser2371Phe | |
| ENST00000377833.8:c.7112C>T | ENSP00000367064.4:p.Ser2371Phe | |
| NM_001081.3:c.7112C>T , LRG_540t1:c.7112C>T | NP_001072.2:p.Ser2371Phe | |
| XM_011519708.1:c.7112C>T | XP_011518010.1:p.Ser2371Phe | |
| XM_011519709.1:c.3098C>T | XP_011518011.1:p.Ser1033Phe | |
| XM_011519710.1:c.3074C>T | XP_011518012.1:p.Ser1025Phe | |
| XM_011519711.1:c.2954C>T | XP_011518013.1:p.Ser985Phe | |
| XM_011519708.2:c.7112C>T | XP_011518010.1:p.Ser2371Phe | |
| XM_011519709.2:c.3098C>T | XP_011518011.1:p.Ser1033Phe | |
| XM_011519710.2:c.3074C>T | XP_011518012.1:p.Ser1025Phe | |
| XM_011519711.3:c.2954C>T | XP_011518013.1:p.Ser985Phe | |
| NM_001081.4:c.7112C>T MANE Select | NP_001072.2:p.Ser2371Phe |