Linked Data
dbSNP Id:
rs1054015193
gnomAD v2:
14-77744806-G-T
gnomAD v3:
14-77278463-G-T
gnomAD v4:
14-77278463-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278463G>T , CM000676.2:g.77278463G>T | GRCh38 |
| NC_000014.8:g.77744806G>T , CM000676.1:g.77744806G>T | GRCh37 |
| NC_000014.7:g.76814559G>T | NCBI36 |
| NG_008897.1:g.47420C>A , LRG_844:g.47420C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.1003C>A | ||
| ENST00000556394.2:c.1619C>A | ENSP00000451967.2:p.Ala540Asp | |
| ENST00000682247.1:c.2067C>A | ENSP00000507213.1:p.Gly689= | |
| ENST00000682395.1:n.2542C>A | ||
| ENST00000682459.1:n.1781C>A | ||
| ENST00000682467.1:c.1937C>A | ENSP00000508062.1:p.Ala646Asp | |
| ENST00000682795.1:c.2225C>A | ENSP00000507574.1:p.Ala742Asp | |
| ENST00000682895.1:n.1794C>A | ||
| ENST00000682955.1:n.1652C>A | ||
| ENST00000683188.1:c.2339C>A | ||
| ENST00000683380.1:n.1742C>A | ||
| ENST00000683907.1:c.343C>A | ENSP00000507754.1:n.343C>A | |
| ENST00000684259.1:n.3845C>A | ||
| ENST00000684538.1:n.1457C>A | ||
| ENST00000684549.1:n.1629C>A | ||
| ENST00000261534.9:c.2078C>A MANE Select | ENSP00000261534.4:p.Ala693Asp | |
| ENST00000261534.8:c.2078C>A | ENSP00000261534.4:p.Ala693Asp | |
| ENST00000452340.7:n.3054C>A | ||
| ENST00000554767.5:n.2864C>A | ||
| ENST00000555710.1:c.439C>A | ENSP00000451730.1:n.439C>A | |
| ENST00000556394.1:c.133C>A | ||
| ENST00000556446.1:n.379C>A | ||
| ENST00000602717.5:c.293C>A | ENSP00000487704.1:p.Ala98Asp | |
| NM_013382.5:c.2078C>A , LRG_844t1:c.2078C>A | NP_037514.2:p.Ala693Asp | |
| XM_011536675.1:c.2267C>A | XP_011534977.1:p.Ala756Asp | |
| XM_011536676.1:c.1934C>A | XP_011534978.1:p.Ala645Asp | |
| XM_011536677.1:c.1808C>A | XP_011534979.1:p.Ala603Asp | |
| XM_011536679.1:c.1361C>A | XP_011534981.1:p.Ala454Asp | |
| XR_943416.1:n.2331C>A | ||
| XM_011536675.2:c.2267C>A | XP_011534977.1:p.Ala756Asp | |
| XM_011536676.2:c.1934C>A | XP_011534978.1:p.Ala645Asp | |
| XM_011536677.3:c.1808C>A | XP_011534979.1:p.Ala603Asp | |
| XR_001750279.1:n.2364C>A | ||
| XR_001750282.1:n.3017C>A | ||
| XR_943416.3:n.2329C>A | ||
| NM_013382.6:c.2078C>A | NP_037514.2:p.Ala693Asp | |
| NM_013382.7:c.2078C>A MANE Select | NP_037514.2:p.Ala693Asp |