Linked Data
ClinVar Variation Id:
540067
dbSNP Id:
rs945997134
gnomAD v2:
14-105180536-C-T
gnomAD v3:
14-104714199-C-T
gnomAD v4:
14-104714199-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104714199C>T , CM000676.2:g.104714199C>T | GRCh38 |
| NC_000014.8:g.105180536C>T , CM000676.1:g.105180536C>T | GRCh37 |
| NC_000014.7:g.104251581C>T | NCBI36 |
| NG_027684.1:g.29594C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3041-4C>T MANE Select | ENSP00000376410.4:n.3041-4C>T | |
| ENST00000617571.5:c.3037-4C>T | ENSP00000483829.2:n.3037-4C>T | |
| ENST00000674520.1:c.3036-4C>T | ENSP00000502593.1:n.3036-4C>T | |
| ENST00000674631.1:c.1079-4C>T | ENSP00000502830.1:n.1079-4C>T | |
| ENST00000674662.1:c.3045-4C>T | ENSP00000501895.1:n.3045-4C>T | |
| ENST00000674757.1:c.3046-4C>T | ENSP00000502202.1:n.3046-4C>T | |
| ENST00000674822.1:c.2925-4C>T | ENSP00000501552.1:n.2925-4C>T | |
| ENST00000674846.1:c.3036-4C>T | ENSP00000502431.1:n.3036-4C>T | |
| ENST00000674857.1:c.3030-4C>T | ENSP00000501687.1:n.3030-4C>T | |
| ENST00000674960.1:c.2899-4C>T | ENSP00000501841.1:n.2899-4C>T | |
| ENST00000674991.1:c.2291-4C>T | ENSP00000502004.1:n.2291-4C>T | |
| ENST00000675207.1:c.3137-4C>T | ENSP00000502644.1:n.3137-4C>T | |
| ENST00000675329.1:c.3017-4C>T | ENSP00000502287.1:n.3017-4C>T | |
| ENST00000675481.1:c.3041-4C>T | ENSP00000502723.1:n.3041-4C>T | |
| ENST00000675583.1:c.2970-4C>T | ENSP00000501740.1:n.2970-4C>T | |
| ENST00000675603.1:n.281-4C>T | ||
| ENST00000675638.1:c.3041-85C>T | ENSP00000501647.1:n.3041-85C>T | |
| ENST00000675724.1:c.2979-4C>T | ENSP00000502576.1:n.2979-4C>T | |
| ENST00000675771.1:c.2304-4C>T | ENSP00000502104.1:n.2304-4C>T | |
| ENST00000675797.1:c.2446-4C>T | ENSP00000502023.1:n.2446-4C>T | |
| ENST00000675809.1:c.3096-4C>T | ENSP00000502587.1:n.3096-4C>T | |
| ENST00000675930.1:c.3041-4C>T | ENSP00000502456.1:n.3041-4C>T | |
| ENST00000675980.1:c.3059-4C>T | ENSP00000502520.1:n.3059-4C>T | |
| ENST00000676016.1:c.2940-4C>T | ENSP00000502412.1:n.2940-4C>T | |
| ENST00000676366.1:c.3041-4C>T | ENSP00000501605.1:n.3041-4C>T | |
| ENST00000252527.8:c.1445-4C>T | ENSP00000252527.8:n.1445-4C>T | |
| ENST00000330634.11:c.3041-4C>T | ENSP00000376406.3:n.3041-4C>T | |
| ENST00000392634.8:c.3041-4C>T | ENSP00000376410.4:n.3041-4C>T | |
| ENST00000617571.4:c.-1093-4C>T | ENSP00000483829.1:n.-1093-4C>T | |
| NM_001031714.3:c.3041-4C>T | NP_001026884.3:n.3041-4C>T | |
| NM_022489.3:c.3041-4C>T | NP_071934.3:n.3041-4C>T | |
| XM_005268004.3:c.3137-4C>T | XP_005268061.1:n.3137-4C>T | |
| XM_005268005.3:c.3137-4C>T | XP_005268062.1:n.3137-4C>T | |
| XR_943507.1:n.3266-4C>T | ||
| XM_005268004.4:c.3137-4C>T | XP_005268061.1:n.3137-4C>T | |
| XM_005268005.4:c.3137-4C>T | XP_005268062.1:n.3137-4C>T | |
| XM_017021595.1:c.3137-4C>T | XP_016877084.1:n.3137-4C>T | |
| NM_001031714.4:c.3041-4C>T | NP_001026884.3:n.3041-4C>T | |
| NM_022489.4:c.3041-4C>T MANE Select | NP_071934.3:n.3041-4C>T |