Linked Data
ClinVar Variation Id:
434622
dbSNP Id:
rs201044013
ExAC:
14:91772264 C / A
gnomAD v2:
14-91772264-C-A
gnomAD v3:
14-91305920-C-A
gnomAD v4:
14-91305920-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91305920C>A , CM000676.2:g.91305920C>A | GRCh38 |
| NC_000014.8:g.91772264C>A , CM000676.1:g.91772264C>A | GRCh37 |
| NC_000014.7:g.90842017C>A | NCBI36 |
| NG_033118.1:g.116925G>T | |
| NG_033118.2:g.116925G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389857.11:c.3202G>T MANE Select | ENSP00000374507.6:p.Ala1068Ser | |
| ENST00000389857.10:c.3202G>T | ENSP00000374507.6:p.Ala1068Ser | |
| NM_001080414.3:c.3202G>T | NP_001073883.2:p.Ala1068Ser | |
| XM_005267691.3:c.3202G>T | XP_005267748.1:p.Ala1068Ser | |
| XM_011536796.1:c.3094G>T | XP_011535098.1:p.Ala1032Ser | |
| XR_429316.2:n.3330G>T | ||
| XR_943459.1:n.3330G>T | ||
| XM_005267691.5:c.3202G>T | XP_005267748.1:p.Ala1068Ser | |
| XM_011536796.2:c.3094G>T | XP_011535098.1:p.Ala1032Ser | |
| XM_017021335.2:c.3202G>T | XP_016876824.1:p.Ala1068Ser | |
| XM_017021336.1:c.283G>T | XP_016876825.1:p.Ala95Ser | |
| XR_429316.4:n.3328G>T | ||
| NM_001080414.4:c.3202G>T MANE Select | NP_001073883.2:p.Ala1068Ser |