Linked Data
ClinVar Variation Id:
374483
dbSNP Id:
rs374202355
ExAC:
14:53513540 G / A
gnomAD v2:
14-53513540-G-A
gnomAD v3:
14-53046822-G-A
gnomAD v4:
14-53046822-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53046822G>A , CM000676.2:g.53046822G>A | GRCh38 |
| NC_000014.8:g.53513540G>A , CM000676.1:g.53513540G>A | GRCh37 |
| NC_000014.7:g.52583290G>A | NCBI36 |
| NG_042832.1:g.111507C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323669.10:c.1974C>T | ENSP00000327104.6:p.Phe658= | |
| ENST00000673822.2:c.2649C>T MANE Select | ENSP00000500986.2:p.Phe883= | |
| ENST00000673827.1:n.2241C>T | ||
| ENST00000673930.1:c.1953C>T | ENSP00000501087.1:p.Phe651= | |
| ENST00000674014.1:c.1909C>T | ||
| ENST00000674152.1:c.1343C>T | ||
| ENST00000323669.9:c.2649C>T | ENSP00000327104.5:p.Phe883= | |
| ENST00000357758.3:c.2565C>T | ENSP00000350401.3:p.Phe855= | |
| ENST00000395606.5:c.2586C>T | ENSP00000378970.1:p.Phe862= | |
| ENST00000556027.5:n.3156C>T | ||
| ENST00000612692.4:c.2262C>T | ENSP00000483405.1:p.Phe754= | |
| NM_001160147.1:c.2586C>T | NP_001153619.1:p.Phe862= | |
| NM_001160148.1:c.2649C>T | NP_001153620.1:p.Phe883= | |
| NM_030637.2:c.2565C>T | NP_085140.2:p.Phe855= | |
| XM_005268102.1:c.2751C>T | XP_005268159.1:p.Phe917= | |
| XM_005268103.1:c.2670C>T | XP_005268160.1:p.Phe890= | |
| XM_005268105.1:c.2520C>T | XP_005268162.1:p.Phe840= | |
| XM_011537188.1:c.2772C>T | XP_011535490.1:p.Phe924= | |
| XM_011537189.1:c.2688C>T | XP_011535491.1:p.Phe896= | |
| XM_005268102.3:c.2751C>T | XP_005268159.1:p.Phe917= | |
| XM_005268103.3:c.2670C>T | XP_005268160.1:p.Phe890= | |
| XM_005268105.3:c.2520C>T | XP_005268162.1:p.Phe840= | |
| XM_011537188.3:c.2772C>T | XP_011535490.1:p.Phe924= | |
| XM_011537189.3:c.2688C>T | XP_011535491.1:p.Phe896= | |
| XM_017021668.2:c.2667C>T | XP_016877157.1:p.Phe889= | |
| XM_017021669.2:c.2436C>T | XP_016877158.1:p.Phe812= | |
| NM_001160147.2:c.2586C>T | NP_001153619.1:p.Phe862= | |
| NM_001160148.2:c.2649C>T MANE Select | NP_001153620.1:p.Phe883= | |
| NM_030637.3:c.2565C>T | NP_085140.2:p.Phe855= |