Linked Data
ClinVar Variation Id:
95949
dbSNP Id:
rs398124354
ExAC:
14:21795846 G / A
gnomAD v2:
14-21795846-G-A
gnomAD v4:
14-21327687-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21327687G>A , CM000676.2:g.21327687G>A | GRCh38 |
| NC_000014.8:g.21795846G>A , CM000676.1:g.21795846G>A | GRCh37 |
| NC_000014.7:g.20865686G>A | NCBI36 |
| NG_008933.1:g.44711G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.2775G>A MANE Select | ENSP00000382895.2:p.Trp925Ter | |
| ENST00000382933.8:c.753G>A | ENSP00000372391.4:p.Trp251Ter | |
| ENST00000400017.6:c.2775G>A | ENSP00000382895.2:p.Trp925Ter | |
| ENST00000553927.1:n.1707G>A | ||
| ENST00000555322.5:c.1202G>A | ||
| ENST00000555489.5:c.968G>A | ENSP00000451044.1:n.968G>A | |
| ENST00000555587.5:c.1200G>A | ENSP00000451262.1:p.Trp400Ter | |
| ENST00000556336.5:c.1746G>A | ENSP00000450445.1:p.Trp582Ter | |
| ENST00000557771.5:c.2661G>A | ENSP00000451219.1:p.Trp887Ter | |
| NM_020366.3:c.2775G>A | NP_065099.3:p.Trp925Ter | |
| XM_005267879.2:c.1701G>A | XP_005267936.1:p.Trp567Ter | |
| XM_005267880.2:c.1668G>A | XP_005267937.1:p.Trp556Ter | |
| XM_005267881.2:c.1149G>A | XP_005267938.1:p.Trp383Ter | |
| XM_011536978.1:c.1701G>A | XP_011535280.1:p.Trp567Ter | |
| XM_011536979.1:c.1485G>A | XP_011535281.1:p.Trp495Ter | |
| XM_011536980.1:c.1356G>A | XP_011535282.1:p.Trp452Ter | |
| XM_011536981.1:c.1206G>A | XP_011535283.1:p.Trp402Ter | |
| XM_011536982.1:c.861G>A | XP_011535284.1:p.Trp287Ter | |
| XM_011536983.1:c.2742G>A | XP_011535285.1:p.Trp914Ter | |
| XM_005267881.3:c.1149G>A | XP_005267938.1:p.Trp383Ter | |
| XM_017021473.1:c.1206G>A | XP_016876962.1:p.Trp402Ter | |
| XM_024449663.1:c.1701G>A | XP_024305431.1:p.Trp567Ter | |
| XM_024449664.1:c.1206G>A | XP_024305432.1:p.Trp402Ter | |
| XM_024449665.1:c.861G>A | XP_024305433.1:p.Trp287Ter | |
| XM_024449666.1:c.861G>A | XP_024305434.1:p.Trp287Ter | |
| NM_001377523.1:c.753G>A | NP_001364452.1:p.Trp251Ter | |
| NM_001377948.1:c.1701G>A | NP_001364877.1:p.Trp567Ter | |
| NM_001377949.1:c.861G>A | NP_001364878.1:p.Trp287Ter | |
| NM_001377950.1:c.753G>A | NP_001364879.1:p.Trp251Ter | |
| NM_001377951.1:c.255G>A | NP_001364880.1:p.Trp85Ter | |
| NM_020366.4:c.2775G>A MANE Select | NP_065099.3:p.Trp925Ter |