Linked Data
dbSNP Id:
rs373753210
ExAC:
7:114302266 C / T
gnomAD v2:
7-114302266-C-T
gnomAD v3:
7-114662211-C-T
gnomAD v4:
7-114662211-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114662211C>T , CM000669.2:g.114662211C>T | GRCh38 |
| NC_000007.13:g.114302266C>T , CM000669.1:g.114302266C>T | GRCh37 |
| NC_000007.12:g.114089502C>T | NCBI36 |
| NG_007491.2:g.580902C>T | |
| NG_007491.3:g.580902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403559.9:c.1820+25C>T | ENSP00000385069.4:n.1820+25C>T | |
| ENST00000703612.1:c.1760+25C>T | ENSP00000515396.1:n.1760+25C>T | |
| ENST00000703613.1:c.1820+25C>T | ENSP00000515397.1:n.1820+25C>T | |
| ENST00000703614.1:c.1769+25C>T | ENSP00000515398.1:n.1769+25C>T | |
| ENST00000703616.1:c.1895+25C>T | ENSP00000515400.1:n.1895+25C>T | |
| ENST00000703617.1:c.1214+25C>T | ENSP00000515401.1:n.1214+25C>T | |
| ENST00000703618.1:c.666+25C>T | ||
| ENST00000350908.9:c.1769+25C>T MANE Select | ENSP00000265436.7:n.1769+25C>T | |
| ENST00000393489.8:c.*1563+25C>T | ENSP00000377129.4:n.*1563+25C>T | |
| ENST00000350908.8:c.1769+25C>T | ENSP00000265436.7:n.1769+25C>T | |
| ENST00000393489.7:c.1493+25C>T | ENSP00000377129.3:n.1493+25C>T | |
| ENST00000393491.7:c.1214+25C>T | ENSP00000377130.3:n.1214+25C>T | |
| ENST00000393494.6:c.1769+25C>T | ENSP00000377132.2:n.1769+25C>T | |
| ENST00000393498.6:c.1706+25C>T | ENSP00000377135.2:n.1706+25C>T | |
| ENST00000403559.8:c.1820+25C>T | ENSP00000385069.4:n.1820+25C>T | |
| ENST00000408937.7:c.1844+25C>T | ENSP00000386200.3:n.1844+25C>T | |
| ENST00000412402.5:c.*1487+25C>T | ENSP00000405470.1:n.*1487+25C>T | |
| ENST00000441290.6:c.*1769+25C>T | ENSP00000416825.1:n.*1769+25C>T | |
| ENST00000634411.1:c.1718+25C>T | ENSP00000489135.1:n.1718+25C>T | |
| ENST00000634623.1:c.1709+25C>T | ENSP00000488944.1:n.1709+25C>T | |
| ENST00000634664.1:n.244+25C>T | ||
| ENST00000635109.1:c.*1566+25C>T | ENSP00000489457.1:n.*1566+25C>T | |
| ENST00000635534.1:c.1760+25C>T | ENSP00000489229.1:n.1760+25C>T | |
| ENST00000635638.1:c.1772+25C>T | ENSP00000489073.1:n.1772+25C>T | |
| NM_001172766.2:c.1766+25C>T | NP_001166237.1:n.1766+25C>T | |
| NM_014491.3:c.1769+25C>T | NP_055306.1:n.1769+25C>T | |
| NM_148898.3:c.1844+25C>T | NP_683696.2:n.1844+25C>T | |
| NM_148900.3:c.1820+25C>T | NP_683698.2:n.1820+25C>T | |
| NR_033766.1:n.2154+25C>T | ||
| NR_033767.1:n.2201+25C>T | ||
| XM_011516706.1:c.1913+25C>T | XP_011515008.1:n.1913+25C>T | |
| XM_017012801.2:c.1844+25C>T | XP_016868290.1:n.1844+25C>T | |
| NM_014491.4:c.1769+25C>T MANE Select | NP_055306.1:n.1769+25C>T | |
| NM_001172766.3:c.1766+25C>T | NP_001166237.1:n.1766+25C>T | |
| NM_148898.4:c.1844+25C>T | NP_683696.2:n.1844+25C>T | |
| NR_033766.2:n.2137+25C>T | ||
| NR_033767.2:n.2383+25C>T | ||
| NM_148900.4:c.1820+25C>T | NP_683698.2:n.1820+25C>T |