Linked Data
ClinVar Variation Id:
1598848
ClinVar RCV Id:
RCV002129667
dbSNP Id:
rs779553602
ExAC:
6:121562717 A / T
gnomAD v2:
6-121562717-A-T
gnomAD v3:
6-121241571-A-T
gnomAD v4:
6-121241571-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121241571A>T , CM000668.2:g.121241571A>T | GRCh38 |
| NC_000006.11:g.121562717A>T , CM000668.1:g.121562717A>T | GRCh37 |
| NC_000006.10:g.121604416A>T | NCBI36 |
| NG_034203.1:g.97930T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275159.11:c.2158-19T>A | ENSP00000275159.6:n.2158-19T>A | |
| ENST00000398212.7:c.2158-19T>A MANE Select | ENSP00000381270.2:n.2158-19T>A | |
| ENST00000275159.10:c.2158-19T>A | ENSP00000275159.6:n.2158-19T>A | |
| ENST00000398212.6:c.2158-19T>A | ENSP00000381270.2:n.2158-19T>A | |
| ENST00000464622.5:c.*1849-19T>A | ENSP00000428839.1:n.*1849-19T>A | |
| NM_152730.5:c.2158-19T>A | NP_689943.4:n.2158-19T>A | |
| NR_104452.1:n.2246-19T>A | ||
| XM_005266861.2:c.2158-19T>A | XP_005266918.1:n.2158-19T>A | |
| XM_011535569.1:c.2158-19T>A | XP_011533871.1:n.2158-19T>A | |
| XM_011535570.1:c.2158-19T>A | XP_011533872.1:n.2158-19T>A | |
| XM_011535571.1:c.2158-19T>A | XP_011533873.1:n.2158-19T>A | |
| XM_011535572.1:c.2158-19T>A | XP_011533874.1:n.2158-19T>A | |
| XM_011535573.1:c.2032-19T>A | XP_011533875.1:n.2032-19T>A | |
| XM_011535574.1:c.1831-19T>A | XP_011533876.1:n.1831-19T>A | |
| XM_011535575.1:c.2158-19T>A | XP_011533877.1:n.2158-19T>A | |
| XM_011535576.1:c.2158-19T>A | XP_011533878.1:n.2158-19T>A | |
| XM_011535577.1:c.2158-19T>A | XP_011533879.1:n.2158-19T>A | |
| XM_011535578.1:c.2158-19T>A | XP_011533880.1:n.2158-19T>A | |
| XM_011535579.1:c.979-19T>A | XP_011533881.1:n.979-19T>A | |
| XM_011535580.1:c.979-19T>A | XP_011533882.1:n.979-19T>A | |
| XM_011535581.1:c.2158-19T>A | XP_011533883.1:n.2158-19T>A | |
| XM_011535582.1:c.2158-19T>A | XP_011533884.1:n.2158-19T>A | |
| XM_011535583.1:c.2158-19T>A | XP_011533885.1:n.2158-19T>A | |
| XM_011535584.1:c.2158-19T>A | XP_011533886.1:n.2158-19T>A | |
| XM_011535585.1:c.2158-19T>A | XP_011533887.1:n.2158-19T>A | |
| XM_011535586.1:c.2019-2383T>A | XP_011533888.1:n.2019-2383T>A | |
| XR_942343.1:n.2228-19T>A | ||
| XR_942345.1:n.2228-19T>A | ||
| XR_942346.1:n.2228-19T>A | ||
| XM_005266861.3:c.2158-19T>A | XP_005266918.1:n.2158-19T>A | |
| XM_011535569.2:c.2158-19T>A | XP_011533871.1:n.2158-19T>A | |
| XM_011535571.3:c.2158-19T>A | XP_011533873.1:n.2158-19T>A | |
| XM_011535575.3:c.2158-19T>A | XP_011533877.1:n.2158-19T>A | |
| XM_011535576.2:c.2158-19T>A | XP_011533878.1:n.2158-19T>A | |
| XM_011535580.2:c.979-19T>A | XP_011533882.1:n.979-19T>A | |
| XM_011535582.3:c.2158-19T>A | XP_011533884.1:n.2158-19T>A | |
| XM_011535585.2:c.2158-19T>A | XP_011533887.1:n.2158-19T>A | |
| XM_017010397.1:c.2158-19T>A | XP_016865886.1:n.2158-19T>A | |
| XM_017010398.2:c.2158-19T>A | XP_016865887.1:n.2158-19T>A | |
| XM_017010399.1:c.2158-19T>A | XP_016865888.1:n.2158-19T>A | |
| XM_017010400.1:c.2032-19T>A | XP_016865889.1:n.2032-19T>A | |
| XM_017010401.1:c.2158-19T>A | XP_016865890.1:n.2158-19T>A | |
| XM_017010402.2:c.2158-19T>A | XP_016865891.1:n.2158-19T>A | |
| XM_017010403.1:c.2158-19T>A | XP_016865892.1:n.2158-19T>A | |
| XM_017010404.1:c.346-19T>A | XP_016865893.1:n.346-19T>A | |
| XM_017010405.1:c.2019-2383T>A | XP_016865894.1:n.2019-2383T>A | |
| XR_001743231.1:n.2276-19T>A | ||
| XR_001743232.2:n.2226-19T>A | ||
| XR_942346.2:n.2276-19T>A | ||
| NM_001367759.1:c.2158-19T>A | NP_001354688.1:n.2158-19T>A | |
| NM_001367760.1:c.2158-19T>A | NP_001354689.1:n.2158-19T>A | |
| NM_152730.6:c.2158-19T>A MANE Select | NP_689943.4:n.2158-19T>A | |
| NR_104452.2:n.2226-19T>A |