Linked Data
ClinVar Variation Id:
514510
dbSNP Id:
rs762044455
ExAC:
14:50666559 G / A
gnomAD v2:
14-50666559-G-A
gnomAD v3:
14-50199841-G-A
gnomAD v4:
14-50199841-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50199841G>A , CM000676.2:g.50199841G>A | GRCh38 |
| NC_000014.8:g.50666559G>A , CM000676.1:g.50666559G>A | GRCh37 |
| NC_000014.7:g.49736309G>A | NCBI36 |
| NG_051073.1:g.36853C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216373.10:c.360C>T MANE Select | ENSP00000216373.5:p.Tyr120= | |
| ENST00000216373.9:c.360C>T | ENSP00000216373.5:p.Tyr120= | |
| ENST00000543680.5:c.360C>T | ENSP00000445328.1:p.Tyr120= | |
| ENST00000555666.1:n.539C>T | ||
| ENST00000556469.5:n.331C>T | ||
| NM_006939.2:c.360C>T | NP_008870.2:p.Tyr120= | |
| XM_005268021.1:c.180C>T | XP_005268078.1:p.Tyr60= | |
| XM_011537103.1:c.321C>T | XP_011535405.1:p.Tyr107= | |
| XM_011537104.1:c.360C>T | XP_011535406.1:p.Tyr120= | |
| XR_943842.1:n.1039+15969G>A | ||
| XR_943843.1:n.1039+15969G>A | ||
| NM_006939.3:c.360C>T | NP_008870.2:p.Tyr120= | |
| NM_006939.4:c.360C>T MANE Select | NP_008870.2:p.Tyr120= |