Linked Data
ClinVar Variation Id:
2920356
ClinVar RCV Id:
RCV003609996
dbSNP Id:
rs1444418720
gnomAD v2:
1-76216244-C-T
gnomAD v3:
1-75750559-C-T
gnomAD v4:
1-75750559-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75750559C>T , CM000663.2:g.75750559C>T | GRCh38 |
| NC_000001.10:g.76216244C>T , CM000663.1:g.76216244C>T | GRCh37 |
| NC_000001.9:g.75988832C>T | NCBI36 |
| NG_007045.2:g.31202C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.945+13C>T MANE Select | ENSP00000359878.5:n.945+13C>T | |
| ENST00000473018.3:n.3069+13C>T | ||
| ENST00000532207.6:n.1834+13C>T | ||
| ENST00000541113.6:c.849+1000C>T | ENSP00000442324.2:n.849+1000C>T | |
| ENST00000679509.1:n.1907+13C>T | ||
| ENST00000679530.1:c.*713+13C>T | ENSP00000506454.1:n.*713+13C>T | |
| ENST00000679615.1:n.2960+13C>T | ||
| ENST00000679687.1:c.507+13C>T | ENSP00000506598.1:n.507+13C>T | |
| ENST00000679704.1:c.*711+13C>T | ENSP00000505117.1:n.*711+13C>T | |
| ENST00000679709.1:c.*908+13C>T | ENSP00000506623.1:n.*908+13C>T | |
| ENST00000679976.1:c.*529+13C>T | ENSP00000505565.1:n.*529+13C>T | |
| ENST00000680166.1:n.4234+13C>T | ||
| ENST00000680315.1:n.828+13C>T | ||
| ENST00000680517.1:c.*333+13C>T | ENSP00000505803.1:n.*333+13C>T | |
| ENST00000680582.1:n.1907+13C>T | ||
| ENST00000680613.1:c.*316+13C>T | ENSP00000506114.1:n.*316+13C>T | |
| ENST00000680662.1:c.*859+13C>T | ENSP00000505080.1:n.*859+13C>T | |
| ENST00000680691.1:c.*608+13C>T | ENSP00000506487.1:n.*608+13C>T | |
| ENST00000680694.1:c.*533+13C>T | ENSP00000505658.1:n.*533+13C>T | |
| ENST00000680743.1:c.*612+13C>T | ENSP00000505073.1:n.*612+13C>T | |
| ENST00000680749.1:c.*230+13C>T | ENSP00000505122.1:n.*230+13C>T | |
| ENST00000680798.1:c.*420+13C>T | ENSP00000505670.1:n.*420+13C>T | |
| ENST00000680805.1:c.804+13C>T | ENSP00000505447.1:n.804+13C>T | |
| ENST00000680844.1:c.*729+13C>T | ENSP00000506541.1:n.*729+13C>T | |
| ENST00000680948.1:c.*812+13C>T | ENSP00000505441.1:n.*812+13C>T | |
| ENST00000680964.1:c.945+13C>T | ENSP00000505961.1:n.945+13C>T | |
| ENST00000681037.1:c.*2429+13C>T | ENSP00000506025.1:n.*2429+13C>T | |
| ENST00000681063.1:c.*92+13C>T | ENSP00000506616.1:n.*92+13C>T | |
| ENST00000681209.1:c.*600+13C>T | ENSP00000505877.1:n.*600+13C>T | |
| ENST00000681278.1:n.1315C>T | ||
| ENST00000681289.1:n.4940+13C>T | ||
| ENST00000681361.1:c.*612+13C>T | ENSP00000506679.1:n.*612+13C>T | |
| ENST00000681430.1:c.945+13C>T | ENSP00000506301.1:n.945+13C>T | |
| ENST00000681446.1:c.*527+13C>T | ENSP00000506244.1:n.*527+13C>T | |
| ENST00000681450.1:c.*616+13C>T | ENSP00000505660.1:n.*616+13C>T | |
| ENST00000681548.1:c.*531+13C>T | ENSP00000505275.1:n.*531+13C>T | |
| ENST00000681616.1:c.*604+13C>T | ENSP00000505111.1:n.*604+13C>T | |
| ENST00000681621.1:c.*529+13C>T | ENSP00000505770.1:n.*529+13C>T | |
| ENST00000681680.1:n.3040+13C>T | ||
| ENST00000681720.1:c.*400+13C>T | ENSP00000505438.1:n.*400+13C>T | |
| ENST00000681730.1:n.1167+13C>T | ||
| ENST00000681790.1:c.687+13C>T | ENSP00000505130.1:n.687+13C>T | |
| ENST00000681837.1:n.1561+13C>T | ||
| ENST00000681913.1:n.3069+13C>T | ||
| ENST00000681916.1:c.*713+13C>T | ENSP00000506477.1:n.*713+13C>T | |
| ENST00000681930.1:n.3069+13C>T | ||
| ENST00000370834.9:c.1044+13C>T | ENSP00000359871.5:n.1044+13C>T | |
| ENST00000370841.8:c.945+13C>T | ENSP00000359878.4:n.945+13C>T | |
| ENST00000420607.6:c.957+13C>T | ENSP00000409612.2:n.957+13C>T | |
| ENST00000481374.1:n.96+13C>T | ||
| ENST00000525808.5:c.*531+13C>T | ENSP00000434823.1:n.*531+13C>T | |
| ENST00000526129.5:c.*729+13C>T | ENSP00000434092.1:n.*729+13C>T | |
| ENST00000526196.5:c.*713+13C>T | ENSP00000431953.1:n.*713+13C>T | |
| ENST00000528016.1:c.159+13C>T | ENSP00000434284.1:n.159+13C>T | |
| ENST00000529059.5:n.854+13C>T | ||
| ENST00000532207.5:n.675+13C>T | ||
| ENST00000534334.5:c.*529+13C>T | ENSP00000435584.1:n.*529+13C>T | |
| ENST00000541113.5:c.837+13C>T | ENSP00000442324.1:n.837+13C>T | |
| NM_000016.5:c.945+13C>T | NP_000007.1:n.945+13C>T | |
| NM_001127328.2:c.957+13C>T | NP_001120800.1:n.957+13C>T | |
| NM_001286042.1:c.837+13C>T | NP_001272971.1:n.837+13C>T | |
| NM_001286043.1:c.1044+13C>T | NP_001272972.1:n.1044+13C>T | |
| NM_001286044.1:c.378+13C>T | NP_001272973.1:n.378+13C>T | |
| NM_000016.6:c.945+13C>T MANE Select | NP_000007.1:n.945+13C>T | |
| NM_001127328.3:c.957+13C>T | NP_001120800.1:n.957+13C>T | |
| NM_001286042.2:c.837+13C>T | NP_001272971.1:n.837+13C>T | |
| NM_001286043.2:c.1044+13C>T | NP_001272972.1:n.1044+13C>T | |
| NM_001286044.2:c.378+13C>T | NP_001272973.1:n.378+13C>T |