Linked Data
ClinVar Variation Id:
372928
ClinVar RCV Id:
RCV003754876
dbSNP Id:
rs1057518079
gnomAD v2:
14-50619836-C-A
gnomAD v4:
14-50153118-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50153118C>A , CM000676.2:g.50153118C>A | GRCh38 |
| NC_000014.8:g.50619836C>A , CM000676.1:g.50619836C>A | GRCh37 |
| NC_000014.7:g.49689586C>A | NCBI36 |
| NG_051073.1:g.83576G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216373.10:c.2113G>T MANE Select | ENSP00000216373.5:p.Asp705Tyr | |
| ENST00000216373.9:c.2113G>T | ENSP00000216373.5:p.Asp705Tyr | |
| ENST00000543680.5:c.2014G>T | ENSP00000445328.1:p.Asp672Tyr | |
| NM_006939.2:c.2113G>T | NP_008870.2:p.Asp705Tyr | |
| XM_005268021.1:c.1933G>T | XP_005268078.1:p.Asp645Tyr | |
| XM_011537103.1:c.2074G>T | XP_011535405.1:p.Asp692Tyr | |
| XM_011537104.1:c.2113G>T | XP_011535406.1:p.Asp705Tyr | |
| NM_006939.3:c.2113G>T | NP_008870.2:p.Asp705Tyr | |
| NM_006939.4:c.2113G>T MANE Select | NP_008870.2:p.Asp705Tyr |