Linked Data
ClinVar Variation Id:
2418437
ClinVar RCV Id:
RCV003121186
dbSNP Id:
rs747270341
ExAC:
14:91772120 C / T
gnomAD v2:
14-91772120-C-T
gnomAD v3:
14-91305776-C-T
gnomAD v4:
14-91305776-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91305776C>T , CM000676.2:g.91305776C>T | GRCh38 |
| NC_000014.8:g.91772120C>T , CM000676.1:g.91772120C>T | GRCh37 |
| NC_000014.7:g.90841873C>T | NCBI36 |
| NG_033118.1:g.117069G>A | |
| NG_033118.2:g.117069G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.3346G>A MANE Select | ENSP00000374507.6:p.Ala1116Thr | |
| ENST00000389857.10:c.3346G>A | ENSP00000374507.6:p.Ala1116Thr | |
| NM_001080414.3:c.3346G>A | NP_001073883.2:p.Ala1116Thr | |
| XM_005267691.3:c.3346G>A | XP_005267748.1:p.Ala1116Thr | |
| XM_011536796.1:c.3238G>A | XP_011535098.1:p.Ala1080Thr | |
| XR_429316.2:n.3474G>A | ||
| XR_943459.1:n.3474G>A | ||
| XM_005267691.5:c.3346G>A | XP_005267748.1:p.Ala1116Thr | |
| XM_011536796.2:c.3238G>A | XP_011535098.1:p.Ala1080Thr | |
| XM_017021335.2:c.3346G>A | XP_016876824.1:p.Ala1116Thr | |
| XM_017021336.1:c.427G>A | XP_016876825.1:p.Ala143Thr | |
| XR_429316.4:n.3472G>A | ||
| NM_001080414.4:c.3346G>A MANE Select | NP_001073883.2:p.Ala1116Thr |