Linked Data
dbSNP Id:
rs1079635
gnomAD v2:
16-78863615-T-C
gnomAD v3:
16-78829718-T-C
gnomAD v4:
16-78829718-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78829718T>C , CM000678.2:g.78829718T>C | GRCh38 |
| NC_000016.9:g.78863615T>C , CM000678.1:g.78863615T>C | GRCh37 |
| NC_000016.8:g.77421116T>C | NCBI36 |
| NG_011698.1:g.735065T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683929.1:c.*28+72703T>C | ENSP00000507689.1:n.*28+72703T>C | |
| ENST00000566780.6:c.1057-381890T>C MANE Select | ENSP00000457230.1:n.1057-381890T>C | |
| ENST00000402655.6:c.410-381890T>C | ENSP00000384238.2:n.410-381890T>C | |
| ENST00000406884.6:c.517-381890T>C | ENSP00000384495.2:n.517-381890T>C | |
| ENST00000539474.6:c.485+72703T>C | ENSP00000445210.2:n.485+72703T>C | |
| ENST00000566780.5:c.1057-381890T>C | ENSP00000457230.1:n.1057-381890T>C | |
| ENST00000569332.5:c.*854-381890T>C | ENSP00000454788.1:n.*854-381890T>C | |
| NM_001291997.1:c.718-381890T>C | NP_001278926.1:n.718-381890T>C | |
| NM_016373.3:c.1057-381890T>C | NP_057457.1:n.1057-381890T>C | |
| XM_011523100.1:c.1152+293876T>C | XP_011521402.1:n.1152+293876T>C | |
| XM_011523103.1:c.*28+72703T>C | XP_011521405.1:n.*28+72703T>C | |
| XM_011523103.3:c.*28+72703T>C | XP_011521405.1:n.*28+72703T>C | |
| XM_017023279.1:c.142+293876T>C | XP_016878768.1:n.142+293876T>C | |
| NM_016373.4:c.1057-381890T>C MANE Select | NP_057457.1:n.1057-381890T>C | |
| NM_001291997.2:c.718-381890T>C | NP_001278926.1:n.718-381890T>C |