Linked Data
ClinVar Variation Id:
2025679
ClinVar RCV Id:
RCV002853334
dbSNP Id:
rs760840859
ExAC:
14:50666538 G / A
gnomAD v2:
14-50666538-G-A
gnomAD v3:
14-50199820-G-A
gnomAD v4:
14-50199820-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50199820G>A , CM000676.2:g.50199820G>A | GRCh38 |
| NC_000014.8:g.50666538G>A , CM000676.1:g.50666538G>A | GRCh37 |
| NC_000014.7:g.49736288G>A | NCBI36 |
| NG_051073.1:g.36874C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.381C>T MANE Select | ENSP00000216373.5:p.Ser127= | |
| ENST00000216373.9:c.381C>T | ENSP00000216373.5:p.Ser127= | |
| ENST00000543680.5:c.381C>T | ENSP00000445328.1:p.Ser127= | |
| ENST00000555666.1:n.560C>T | ||
| ENST00000556469.5:n.352C>T | ||
| NM_006939.2:c.381C>T | NP_008870.2:p.Ser127= | |
| XM_005268021.1:c.201C>T | XP_005268078.1:p.Ser67= | |
| XM_011537103.1:c.342C>T | XP_011535405.1:p.Ser114= | |
| XM_011537104.1:c.381C>T | XP_011535406.1:p.Ser127= | |
| XR_943842.1:n.1039+15948G>A | ||
| XR_943843.1:n.1039+15948G>A | ||
| NM_006939.3:c.381C>T | NP_008870.2:p.Ser127= | |
| NM_006939.4:c.381C>T MANE Select | NP_008870.2:p.Ser127= |