Linked Data
ClinVar Variation Id:
6439
dbSNP Id:
rs121908866
ExAC:
14:81610039 G / A
gnomAD v2:
14-81610039-G-A
gnomAD v3:
14-81143695-G-A
gnomAD v4:
14-81143695-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81143695G>A , CM000676.2:g.81143695G>A | GRCh38 |
| NC_000014.8:g.81610039G>A , CM000676.1:g.81610039G>A | GRCh37 |
| NC_000014.7:g.80679792G>A | NCBI36 |
| NG_009206.1:g.193171G>A , LRG_523:g.193171G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298171.7:c.1637G>A MANE Select | ENSP00000298171.2:p.Trp546Ter | |
| ENST00000636454.1:n.1555G>A | ||
| ENST00000637447.1:c.540G>A | ||
| ENST00000298171.6:c.1637G>A | ENSP00000298171.2:p.Trp546Ter | |
| ENST00000541158.6:c.1637G>A | ENSP00000441235.2:p.Trp546Ter | |
| NM_000369.2:c.1637G>A , LRG_523t1:c.1637G>A | NP_000360.2:p.Trp546Ter | |
| XM_005268037.3:c.1637G>A | XP_005268094.1:p.Trp546Ter | |
| XM_011537119.1:c.1358G>A | XP_011535421.1:p.Trp453Ter | |
| XR_245790.3:n.2086+21498C>T | ||
| XR_429385.2:n.853+21498C>T | ||
| XR_429386.2:n.854+21498C>T | ||
| XR_944075.1:n.865+21498C>T | ||
| XR_944076.1:n.861+21498C>T | ||
| XR_944077.1:n.865+21498C>T | ||
| XR_944078.1:n.865+21498C>T | ||
| XR_944079.1:n.855+21498C>T | ||
| XM_005268037.4:c.1637G>A | XP_005268094.1:p.Trp546Ter | |
| XM_011537119.2:c.1358G>A | XP_011535421.1:p.Trp453Ter | |
| XR_001751021.1:n.2753+21498C>T | ||
| XR_001751022.1:n.2753+21498C>T | ||
| XR_001751023.1:n.2753+21498C>T | ||
| XR_944075.3:n.929+21498C>T | ||
| NM_000369.4:c.1637G>A | NP_000360.2:p.Trp546Ter | |
| NM_000369.5:c.1637G>A MANE Select | NP_000360.2:p.Trp546Ter |