Linked Data
ClinVar Variation Id:
215548
dbSNP Id:
rs142073418
ExAC:
14:89343670 G / C
gnomAD v2:
14-89343670-G-C
gnomAD v3:
14-88877326-G-C
gnomAD v4:
14-88877326-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88877326G>C , CM000676.2:g.88877326G>C | GRCh38 |
| NC_000014.8:g.89343670G>C , CM000676.1:g.89343670G>C | GRCh37 |
| NC_000014.7:g.88413423G>C | NCBI36 |
| NG_008126.1:g.57693G>C | |
| NG_008126.2:g.58174G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380656.7:c.1464G>C MANE Select | ENSP00000370031.2:p.Ala488= | |
| ENST00000338104.10:c.1512G>C | ENSP00000337653.6:p.Ala504= | |
| ENST00000345383.9:c.1464G>C | ENSP00000339486.6:p.Ala488= | |
| ENST00000346301.8:c.1344G>C | ENSP00000298324.6:p.Ala448= | |
| ENST00000354441.10:c.669G>C | ENSP00000346427.6:p.Ala223= | |
| ENST00000358622.9:c.870G>C | ENSP00000351439.5:p.Ala290= | |
| ENST00000380656.6:c.1464G>C | ENSP00000370031.2:p.Ala488= | |
| ENST00000536576.5:c.1344G>C | ENSP00000445067.2:p.Ala448= | |
| ENST00000554686.5:c.1229G>C | ||
| ENST00000555057.5:c.*871G>C | ENSP00000450951.1:n.*871G>C | |
| ENST00000614125.4:c.1512G>C | ENSP00000482306.1:p.Ala504= | |
| ENST00000622513.4:c.1434G>C | ENSP00000482721.1:p.Ala478= | |
| NM_001288781.1:c.1512G>C | NP_001275710.1:p.Ala504= | |
| NM_001288782.1:c.870G>C | NP_001275711.1:p.Ala290= | |
| NM_001288783.1:c.747G>C | NP_001275712.1:p.Ala249= | |
| NM_144596.3:c.1464G>C | NP_653197.2:p.Ala488= | |
| NM_198309.3:c.1434G>C | NP_938051.1:p.Ala478= | |
| NM_198310.3:c.1344G>C | NP_938052.1:p.Ala448= | |
| XM_006720035.1:c.1434G>C | XP_006720098.1:p.Ala478= | |
| XM_006720037.2:c.1344G>C | XP_006720100.1:p.Ala448= | |
| XM_011536432.1:c.1512G>C | XP_011534734.1:p.Ala504= | |
| XM_011536433.1:c.1428G>C | XP_011534735.1:p.Ala476= | |
| XM_011536434.1:c.1422G>C | XP_011534736.1:p.Ala474= | |
| XM_011536435.1:c.747G>C | XP_011534737.1:p.Ala249= | |
| NM_001366535.1:c.1350G>C | NP_001353464.1:p.Ala450= | |
| NM_001366536.1:c.1260G>C | NP_001353465.1:p.Ala420= | |
| NR_159362.1:n.1551G>C | ||
| XM_011536433.2:c.1428G>C | XP_011534735.1:p.Ala476= | |
| XM_011536434.2:c.1422G>C | XP_011534736.1:p.Ala474= | |
| XM_024449477.1:c.747G>C | XP_024305245.1:p.Ala249= | |
| NM_001366535.2:c.1350G>C | NP_001353464.1:p.Ala450= | |
| NM_001366536.2:c.1260G>C | NP_001353465.1:p.Ala420= | |
| NR_159362.2:n.1551G>C | ||
| NM_144596.4:c.1464G>C MANE Select | NP_653197.2:p.Ala488= |