Linked Data
dbSNP Id:
rs949515396
gnomAD v2:
14-105167669-A-G
gnomAD v4:
14-104701332-A-G
MyVariant Identifiers:
chr14:g.105167669A>G (hg19)
chr14:g.105167669_105167672delinsGCGG (hg19)
chr14:g.104701332A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104701332A>G , CM000676.2:g.104701332A>G | GRCh38 |
| NC_000014.8:g.105167669A>G , CM000676.1:g.105167669A>G | GRCh37 |
| NC_000014.7:g.104238714A>G | NCBI36 |
| NG_027684.1:g.16727A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.-9-25A>G MANE Select | ENSP00000376410.4:n.-9-25A>G | |
| ENST00000674723.1:c.-9-25A>G | ENSP00000502257.1:n.-9-25A>G | |
| ENST00000674869.1:c.-9-25A>G | ENSP00000501558.1:n.-9-25A>G | |
| ENST00000674966.1:n.460-25A>G | ||
| ENST00000675207.1:c.88-25A>G | ENSP00000502644.1:n.88-25A>G | |
| ENST00000675313.1:n.33-25A>G | ||
| ENST00000675482.1:c.-9-25A>G | ENSP00000501798.1:n.-9-25A>G | |
| ENST00000675616.1:n.32-25A>G | ||
| ENST00000676100.1:n.129-25A>G | ||
| ENST00000676427.1:c.-9-25A>G | ENSP00000502106.1:n.-9-25A>G | |
| ENST00000330634.11:c.-9-25A>G | ENSP00000376406.3:n.-9-25A>G | |
| ENST00000392634.8:c.-9-25A>G | ENSP00000376410.4:n.-9-25A>G | |
| ENST00000398337.8:c.-9-25A>G | ENSP00000381380.4:n.-9-25A>G | |
| NM_001031714.3:c.-9-25A>G | NP_001026884.3:n.-9-25A>G | |
| NM_022489.3:c.-9-25A>G | NP_071934.3:n.-9-25A>G | |
| NM_032714.2:c.-9-25A>G | NP_116103.1:n.-9-25A>G | |
| XM_005268004.3:c.88-25A>G | XP_005268061.1:n.88-25A>G | |
| XM_005268005.3:c.88-25A>G | XP_005268062.1:n.88-25A>G | |
| XR_943507.1:n.217-25A>G | ||
| XM_005268004.4:c.88-25A>G | XP_005268061.1:n.88-25A>G | |
| XM_005268005.4:c.88-25A>G | XP_005268062.1:n.88-25A>G | |
| XM_017021595.1:c.88-25A>G | XP_016877084.1:n.88-25A>G | |
| XR_001750518.1:n.193-25A>G | ||
| NM_001031714.4:c.-9-25A>G | NP_001026884.3:n.-9-25A>G | |
| NM_022489.4:c.-9-25A>G MANE Select | NP_071934.3:n.-9-25A>G | |
| NM_032714.3:c.-9-25A>G | NP_116103.1:n.-9-25A>G |