Linked Data
dbSNP Id:
rs755038020
ExAC:
14:77753087 T / A
gnomAD v2:
14-77753087-T-A
gnomAD v3:
14-77286744-T-A
gnomAD v4:
14-77286744-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77286744T>A , CM000676.2:g.77286744T>A | GRCh38 |
| NC_000014.8:g.77753087T>A , CM000676.1:g.77753087T>A | GRCh37 |
| NC_000014.7:g.76822840T>A | NCBI36 |
| NG_008897.1:g.39139A>T , LRG_844:g.39139A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.873A>T | ENSP00000451967.2:p.Ile291= | |
| ENST00000682247.1:c.1332A>T | ENSP00000507213.1:p.Ile444= | |
| ENST00000682382.1:c.904A>T | ||
| ENST00000682395.1:n.1510A>T | ||
| ENST00000682459.1:n.1035A>T | ||
| ENST00000682467.1:c.1332A>T | ENSP00000508062.1:p.Ile444= | |
| ENST00000682706.1:n.109A>T | ||
| ENST00000682795.1:c.1332A>T | ENSP00000507574.1:p.Ile444= | |
| ENST00000682895.1:n.1048A>T | ||
| ENST00000682955.1:n.620A>T | ||
| ENST00000683188.1:c.1307A>T | ||
| ENST00000683328.1:c.325A>T | ENSP00000508096.1:n.325A>T | |
| ENST00000683380.1:n.996A>T | ||
| ENST00000683828.1:c.1041A>T | ||
| ENST00000684259.1:n.1183A>T | ||
| ENST00000684444.1:c.79A>T | ||
| ENST00000684549.1:n.883A>T | ||
| ENST00000261534.9:c.1332A>T MANE Select | ENSP00000261534.4:p.Ile444= | |
| ENST00000261534.8:c.1332A>T | ENSP00000261534.4:p.Ile444= | |
| ENST00000452340.7:n.1355A>T | ||
| ENST00000553880.5:n.203A>T | ||
| ENST00000554767.5:n.2118A>T | ||
| ENST00000554884.5:n.324A>T | ||
| ENST00000556404.1:n.466A>T | ||
| ENST00000557675.5:n.422A>T | ||
| NM_013382.5:c.1332A>T , LRG_844t1:c.1332A>T | NP_037514.2:p.Ile444= | |
| XM_011536675.1:c.1332A>T | XP_011534977.1:p.Ile444= | |
| XM_011536676.1:c.999A>T | XP_011534978.1:p.Ile333= | |
| XM_011536677.1:c.873A>T | XP_011534979.1:p.Ile291= | |
| XM_011536678.1:c.1332A>T | XP_011534980.1:p.Ile444= | |
| XM_011536679.1:c.426A>T | XP_011534981.1:p.Ile142= | |
| XR_943416.1:n.1535A>T | ||
| XM_011536675.2:c.1332A>T | XP_011534977.1:p.Ile444= | |
| XM_011536676.2:c.999A>T | XP_011534978.1:p.Ile333= | |
| XM_011536677.3:c.873A>T | XP_011534979.1:p.Ile291= | |
| XR_001750279.1:n.1532A>T | ||
| XR_001750282.1:n.1985A>T | ||
| XR_943416.3:n.1533A>T | ||
| NM_013382.6:c.1332A>T | NP_037514.2:p.Ile444= | |
| NM_013382.7:c.1332A>T MANE Select | NP_037514.2:p.Ile444= |