Linked Data
dbSNP Id:
rs919088254
gnomAD v2:
16-78187048-A-C
gnomAD v3:
16-78153151-A-C
gnomAD v4:
16-78153151-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78153151A>C , CM000678.2:g.78153151A>C | GRCh38 |
| NC_000016.9:g.78187048A>C , CM000678.1:g.78187048A>C | GRCh37 |
| NC_000016.8:g.76744549A>C | NCBI36 |
| NG_011698.1:g.58498A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000627394.3:c.410-11032A>C | ENSP00000485925.2:n.410-11032A>C | |
| ENST00000683286.1:n.737-11032A>C | ||
| ENST00000683929.1:c.410-11032A>C | ENSP00000507689.1:n.410-11032A>C | |
| ENST00000684070.1:n.674-11032A>C | ||
| ENST00000684632.1:n.789-11032A>C | ||
| ENST00000566780.6:c.410-11032A>C MANE Select | ENSP00000457230.1:n.410-11032A>C | |
| ENST00000355860.7:c.410-11032A>C | ENSP00000348119.3:n.410-11032A>C | |
| ENST00000402655.6:c.409+37997A>C | ENSP00000384238.2:n.409+37997A>C | |
| ENST00000406884.6:c.410-11032A>C | ENSP00000384495.2:n.410-11032A>C | |
| ENST00000408984.7:c.410-11032A>C | ENSP00000386161.3:n.410-11032A>C | |
| ENST00000539474.6:c.409+37997A>C | ENSP00000445210.2:n.409+37997A>C | |
| ENST00000561846.5:n.454-11032A>C | ||
| ENST00000562639.5:n.98-11032A>C | ||
| ENST00000563358.5:n.517-11032A>C | ||
| ENST00000565791.1:n.17+7218A>C | ||
| ENST00000566662.5:c.*28-11032A>C | ENSP00000454331.1:n.*28-11032A>C | |
| ENST00000566780.5:c.410-11032A>C | ENSP00000457230.1:n.410-11032A>C | |
| ENST00000569332.5:c.*207-11032A>C | ENSP00000454788.1:n.*207-11032A>C | |
| ENST00000627394.2:c.*207-11032A>C | ENSP00000485925.1:n.*207-11032A>C | |
| NM_001291997.1:c.71-11032A>C | NP_001278926.1:n.71-11032A>C | |
| NM_016373.3:c.410-11032A>C | NP_057457.1:n.410-11032A>C | |
| NM_130791.3:c.410-11032A>C | NP_570607.1:n.410-11032A>C | |
| NR_120436.1:n.890-11032A>C | ||
| XM_006721195.2:c.410-11032A>C | XP_006721258.1:n.410-11032A>C | |
| XM_011523100.1:c.410-11032A>C | XP_011521402.1:n.410-11032A>C | |
| XM_011523101.1:c.410-11032A>C | XP_011521403.1:n.410-11032A>C | |
| XM_011523102.1:c.410-11032A>C | XP_011521404.1:n.410-11032A>C | |
| XM_011523103.1:c.410-11032A>C | XP_011521405.1:n.410-11032A>C | |
| XM_011523104.1:c.410-11032A>C | XP_011521406.1:n.410-11032A>C | |
| XM_011523105.1:c.410-11032A>C | XP_011521407.1:n.410-11032A>C | |
| XM_011523101.3:c.410-11032A>C | XP_011521403.1:n.410-11032A>C | |
| XM_011523103.3:c.410-11032A>C | XP_011521405.1:n.410-11032A>C | |
| XM_011523104.3:c.410-11032A>C | XP_011521406.1:n.410-11032A>C | |
| XM_011523105.3:c.410-11032A>C | XP_011521407.1:n.410-11032A>C | |
| XM_017023278.2:c.410-11032A>C | XP_016878767.1:n.410-11032A>C | |
| NM_016373.4:c.410-11032A>C MANE Select | NP_057457.1:n.410-11032A>C | |
| NM_001291997.2:c.71-11032A>C | NP_001278926.1:n.71-11032A>C | |
| NM_130791.4:c.410-11032A>C | NP_570607.1:n.410-11032A>C | |
| NR_120436.2:n.649-11032A>C | ||
| NM_130791.5:c.410-11032A>C | NP_570607.1:n.410-11032A>C | |
| NR_120436.3:n.649-11032A>C |