Linked Data
ClinVar Variation Id:
799064
ClinVar RCV Id:
RCV000982639
dbSNP Id:
rs765625793
ExAC:
1:76198336 C / T
gnomAD v2:
1-76198336-C-T
gnomAD v3:
1-75732651-C-T
gnomAD v4:
1-75732651-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75732651C>T , CM000663.2:g.75732651C>T | GRCh38 |
| NC_000001.10:g.76198336C>T , CM000663.1:g.76198336C>T | GRCh37 |
| NC_000001.9:g.75970924C>T | NCBI36 |
| NG_007045.2:g.13294C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.126C>T MANE Select | ENSP00000359878.5:p.Thr42= | |
| ENST00000473018.3:n.483C>T | ||
| ENST00000525881.6:n.483C>T | ||
| ENST00000541113.6:c.126C>T | ENSP00000442324.2:p.Thr42= | |
| ENST00000679509.1:n.483C>T | ||
| ENST00000679530.1:c.126C>T | ENSP00000506454.1:p.Thr42= | |
| ENST00000679615.1:n.483C>T | ||
| ENST00000679687.1:c.31-7329C>T | ENSP00000506598.1:n.31-7329C>T | |
| ENST00000679704.1:c.38C>T | ENSP00000505117.1:p.Pro13Leu | |
| ENST00000679709.1:c.*89C>T | ENSP00000506623.1:n.*89C>T | |
| ENST00000679804.1:n.47C>T | ||
| ENST00000679976.1:c.126C>T | ENSP00000505565.1:p.Thr42= | |
| ENST00000680166.1:n.1648C>T | ||
| ENST00000680517.1:c.126C>T | ENSP00000505803.1:p.Thr42= | |
| ENST00000680582.1:n.483C>T | ||
| ENST00000680613.1:c.126C>T | ENSP00000506114.1:p.Thr42= | |
| ENST00000680662.1:c.*40C>T | ENSP00000505080.1:n.*40C>T | |
| ENST00000680691.1:c.126C>T | ENSP00000506487.1:p.Thr42= | |
| ENST00000680694.1:c.126C>T | ENSP00000505658.1:p.Thr42= | |
| ENST00000680743.1:c.38C>T | ENSP00000505073.1:p.Pro13Leu | |
| ENST00000680749.1:c.126C>T | ENSP00000505122.1:p.Thr42= | |
| ENST00000680798.1:c.126C>T | ENSP00000505670.1:p.Thr42= | |
| ENST00000680805.1:c.126C>T | ENSP00000505447.1:p.Thr42= | |
| ENST00000680844.1:c.38C>T | ENSP00000506541.1:p.Pro13Leu | |
| ENST00000680948.1:c.38C>T | ENSP00000505441.1:p.Pro13Leu | |
| ENST00000680964.1:c.126C>T | ENSP00000505961.1:p.Thr42= | |
| ENST00000681037.1:c.126C>T | ENSP00000506025.1:p.Thr42= | |
| ENST00000681063.1:c.126C>T | ENSP00000506616.1:p.Thr42= | |
| ENST00000681209.1:c.126C>T | ENSP00000505877.1:p.Thr42= | |
| ENST00000681278.1:n.483C>T | ||
| ENST00000681289.1:n.483C>T | ||
| ENST00000681361.1:c.38C>T | ENSP00000506679.1:p.Pro13Leu | |
| ENST00000681430.1:c.126C>T | ENSP00000506301.1:p.Thr42= | |
| ENST00000681446.1:c.126C>T | ENSP00000506244.1:p.Thr42= | |
| ENST00000681450.1:c.38C>T | ENSP00000505660.1:p.Pro13Leu | |
| ENST00000681548.1:c.38C>T | ENSP00000505275.1:p.Pro13Leu | |
| ENST00000681616.1:c.38C>T | ENSP00000505111.1:p.Pro13Leu | |
| ENST00000681621.1:c.126C>T | ENSP00000505770.1:p.Thr42= | |
| ENST00000681680.1:n.483C>T | ||
| ENST00000681720.1:c.38C>T | ENSP00000505438.1:p.Pro13Leu | |
| ENST00000681730.1:n.348C>T | ||
| ENST00000681790.1:c.-133C>T | ENSP00000505130.1:n.-133C>T | |
| ENST00000681837.1:n.137C>T | ||
| ENST00000681913.1:n.483C>T | ||
| ENST00000681916.1:c.38C>T | ENSP00000506477.1:p.Pro13Leu | |
| ENST00000681930.1:n.483C>T | ||
| ENST00000370834.9:c.126C>T | ENSP00000359871.5:p.Thr42= | |
| ENST00000370841.8:c.126C>T | ENSP00000359878.4:p.Thr42= | |
| ENST00000420607.6:c.138C>T | ENSP00000409612.2:p.Thr46= | |
| ENST00000473018.2:n.159C>T | ||
| ENST00000525808.5:c.38C>T | ENSP00000434823.1:p.Pro13Leu | |
| ENST00000525881.5:n.135C>T | ||
| ENST00000526129.5:c.126C>T | ENSP00000434092.1:p.Thr42= | |
| ENST00000526196.5:c.38C>T | ENSP00000431953.1:p.Pro13Leu | |
| ENST00000529059.5:n.136C>T | ||
| ENST00000530953.6:c.118+4163C>T | ENSP00000431372.1:n.118+4163C>T | |
| ENST00000532509.5:c.119-202C>T | ENSP00000432522.1:n.119-202C>T | |
| ENST00000534146.5:n.205C>T | ||
| ENST00000534334.5:c.126C>T | ENSP00000435584.1:p.Thr42= | |
| ENST00000541113.5:c.18C>T | ENSP00000442324.1:p.Thr6= | |
| NM_000016.5:c.126C>T | NP_000007.1:p.Thr42= | |
| NM_001127328.2:c.138C>T | NP_001120800.1:p.Thr46= | |
| NM_001286042.1:c.18C>T | NP_001272971.1:p.Thr6= | |
| NM_001286043.1:c.126C>T | NP_001272972.1:p.Thr42= | |
| NM_001286044.1:c.-260C>T | NP_001272973.1:n.-260C>T | |
| NM_000016.6:c.126C>T MANE Select | NP_000007.1:p.Thr42= | |
| NM_001127328.3:c.138C>T | NP_001120800.1:p.Thr46= | |
| NM_001286042.2:c.18C>T | NP_001272971.1:p.Thr6= | |
| NM_001286043.2:c.126C>T | NP_001272972.1:p.Thr42= | |
| NM_001286044.2:c.-260C>T | NP_001272973.1:n.-260C>T |