Linked Data
ClinVar Variation Id:
540077
dbSNP Id:
rs201065953
ExAC:
14:105176051 G / A
gnomAD v2:
14-105176051-G-A
gnomAD v3:
14-104709714-G-A
gnomAD v4:
14-104709714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104709714G>A , CM000676.2:g.104709714G>A | GRCh38 |
| NC_000014.8:g.105176051G>A , CM000676.1:g.105176051G>A | GRCh37 |
| NC_000014.7:g.104247096G>A | NCBI36 |
| NG_027684.1:g.25109G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.2138+9G>A MANE Select | ENSP00000376410.4:n.2138+9G>A | |
| ENST00000617571.5:c.2138+9G>A | ENSP00000483829.2:n.2138+9G>A | |
| ENST00000674520.1:c.2138+9G>A | ENSP00000502593.1:n.2138+9G>A | |
| ENST00000674631.1:c.176+9G>A | ENSP00000502830.1:n.176+9G>A | |
| ENST00000674662.1:c.2138+9G>A | ENSP00000501895.1:n.2138+9G>A | |
| ENST00000674757.1:c.2138+9G>A | ENSP00000502202.1:n.2138+9G>A | |
| ENST00000674822.1:c.2022+9G>A | ENSP00000501552.1:n.2022+9G>A | |
| ENST00000674846.1:c.2138+9G>A | ENSP00000502431.1:n.2138+9G>A | |
| ENST00000674857.1:c.2127+9G>A | ENSP00000501687.1:n.2127+9G>A | |
| ENST00000674960.1:c.1996+9G>A | ENSP00000501841.1:n.1996+9G>A | |
| ENST00000674991.1:c.1388+9G>A | ENSP00000502004.1:n.1388+9G>A | |
| ENST00000674994.1:c.2104+9G>A | ENSP00000502442.1:n.2104+9G>A | |
| ENST00000675207.1:c.2234+9G>A | ENSP00000502644.1:n.2234+9G>A | |
| ENST00000675329.1:c.2114+9G>A | ENSP00000502287.1:n.2114+9G>A | |
| ENST00000675481.1:c.2138+9G>A | ENSP00000502723.1:n.2138+9G>A | |
| ENST00000675583.1:c.2138+9G>A | ENSP00000501740.1:n.2138+9G>A | |
| ENST00000675638.1:c.2138+9G>A | ENSP00000501647.1:n.2138+9G>A | |
| ENST00000675724.1:c.2076+9G>A | ENSP00000502576.1:n.2076+9G>A | |
| ENST00000675771.1:c.1401+9G>A | ENSP00000502104.1:n.1401+9G>A | |
| ENST00000675797.1:c.1543+9G>A | ENSP00000502023.1:n.1543+9G>A | |
| ENST00000675809.1:c.2138+9G>A | ENSP00000502587.1:n.2138+9G>A | |
| ENST00000675930.1:c.2138+9G>A | ENSP00000502456.1:n.2138+9G>A | |
| ENST00000675980.1:c.2138+9G>A | ENSP00000502520.1:n.2138+9G>A | |
| ENST00000676016.1:c.2138+9G>A | ENSP00000502412.1:n.2138+9G>A | |
| ENST00000676366.1:c.2138+9G>A | ENSP00000501605.1:n.2138+9G>A | |
| ENST00000252527.8:c.542+9G>A | ENSP00000252527.8:n.542+9G>A | |
| ENST00000330634.11:c.2138+9G>A | ENSP00000376406.3:n.2138+9G>A | |
| ENST00000392634.8:c.2138+9G>A | ENSP00000376410.4:n.2138+9G>A | |
| ENST00000474229.1:n.631+9G>A | ||
| ENST00000617571.4:c.-1986+9G>A | ENSP00000483829.1:n.-1986+9G>A | |
| NM_001031714.3:c.2138+9G>A | NP_001026884.3:n.2138+9G>A | |
| NM_022489.3:c.2138+9G>A | NP_071934.3:n.2138+9G>A | |
| XM_005268004.3:c.2234+9G>A | XP_005268061.1:n.2234+9G>A | |
| XM_005268005.3:c.2234+9G>A | XP_005268062.1:n.2234+9G>A | |
| XR_943507.1:n.2363+9G>A | ||
| XM_005268004.4:c.2234+9G>A | XP_005268061.1:n.2234+9G>A | |
| XM_005268005.4:c.2234+9G>A | XP_005268062.1:n.2234+9G>A | |
| XM_017021595.1:c.2234+9G>A | XP_016877084.1:n.2234+9G>A | |
| XR_001750518.1:n.2339+9G>A | ||
| NM_001031714.4:c.2138+9G>A | NP_001026884.3:n.2138+9G>A | |
| NM_022489.4:c.2138+9G>A MANE Select | NP_071934.3:n.2138+9G>A |