Linked Data
ClinVar Variation Id:
314804
dbSNP Id:
rs199649536
ExAC:
14:89343669 C / T
gnomAD v2:
14-89343669-C-T
gnomAD v3:
14-88877325-C-T
gnomAD v4:
14-88877325-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88877325C>T , CM000676.2:g.88877325C>T | GRCh38 |
| NC_000014.8:g.89343669C>T , CM000676.1:g.89343669C>T | GRCh37 |
| NC_000014.7:g.88413422C>T | NCBI36 |
| NG_008126.1:g.57692C>T | |
| NG_008126.2:g.58173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380656.7:c.1463C>T MANE Select | ENSP00000370031.2:p.Ala488Val | |
| ENST00000338104.10:c.1511C>T | ENSP00000337653.6:p.Ala504Val | |
| ENST00000345383.9:c.1463C>T | ENSP00000339486.6:p.Ala488Val | |
| ENST00000346301.8:c.1343C>T | ENSP00000298324.6:p.Ala448Val | |
| ENST00000354441.10:c.668C>T | ENSP00000346427.6:p.Ala223Val | |
| ENST00000358622.9:c.869C>T | ENSP00000351439.5:p.Ala290Val | |
| ENST00000380656.6:c.1463C>T | ENSP00000370031.2:p.Ala488Val | |
| ENST00000536576.5:c.1343C>T | ENSP00000445067.2:p.Ala448Val | |
| ENST00000554686.5:c.1228C>T | ||
| ENST00000555057.5:c.*870C>T | ENSP00000450951.1:n.*870C>T | |
| ENST00000614125.4:c.1511C>T | ENSP00000482306.1:p.Ala504Val | |
| ENST00000622513.4:c.1433C>T | ENSP00000482721.1:p.Ala478Val | |
| NM_001288781.1:c.1511C>T | NP_001275710.1:p.Ala504Val | |
| NM_001288782.1:c.869C>T | NP_001275711.1:p.Ala290Val | |
| NM_001288783.1:c.746C>T | NP_001275712.1:p.Ala249Val | |
| NM_144596.3:c.1463C>T | NP_653197.2:p.Ala488Val | |
| NM_198309.3:c.1433C>T | NP_938051.1:p.Ala478Val | |
| NM_198310.3:c.1343C>T | NP_938052.1:p.Ala448Val | |
| XM_006720035.1:c.1433C>T | XP_006720098.1:p.Ala478Val | |
| XM_006720037.2:c.1343C>T | XP_006720100.1:p.Ala448Val | |
| XM_011536432.1:c.1511C>T | XP_011534734.1:p.Ala504Val | |
| XM_011536433.1:c.1427C>T | XP_011534735.1:p.Ala476Val | |
| XM_011536434.1:c.1421C>T | XP_011534736.1:p.Ala474Val | |
| XM_011536435.1:c.746C>T | XP_011534737.1:p.Ala249Val | |
| NM_001366535.1:c.1349C>T | NP_001353464.1:p.Ala450Val | |
| NM_001366536.1:c.1259C>T | NP_001353465.1:p.Ala420Val | |
| NR_159362.1:n.1550C>T | ||
| XM_011536433.2:c.1427C>T | XP_011534735.1:p.Ala476Val | |
| XM_011536434.2:c.1421C>T | XP_011534736.1:p.Ala474Val | |
| XM_024449477.1:c.746C>T | XP_024305245.1:p.Ala249Val | |
| NM_001366535.2:c.1349C>T | NP_001353464.1:p.Ala450Val | |
| NM_001366536.2:c.1259C>T | NP_001353465.1:p.Ala420Val | |
| NR_159362.2:n.1550C>T | ||
| NM_144596.4:c.1463C>T MANE Select | NP_653197.2:p.Ala488Val |