Linked Data
ClinVar Variation Id:
471249
dbSNP Id:
rs146613929
ExAC:
14:51027013 T / C
gnomAD v2:
14-51027013-T-C
gnomAD v3:
14-50560295-T-C
gnomAD v4:
14-50560295-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50560295T>C , CM000676.2:g.50560295T>C | GRCh38 |
| NC_000014.8:g.51027013T>C , CM000676.1:g.51027013T>C | GRCh37 |
| NC_000014.7:g.50096763T>C | NCBI36 |
| NG_009028.1:g.32214T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.30T>C (ATL1) | ENSP00000450989.2:p.Ser10= | |
| ENST00000553746.2:n.231T>C (ATL1) | ||
| ENST00000556478.3:c.30T>C (ATL1) | ENSP00000501428.2:p.Ser10= | |
| ENST00000682037.1:c.30T>C (ATL1) | ENSP00000508289.1:p.Ser10= | |
| ENST00000682219.1:n.909T>C (ATL1) | ||
| ENST00000682226.1:n.364T>C (ATL1) | ||
| ENST00000682487.1:n.364T>C (ATL1) | ||
| ENST00000683330.1:n.364T>C (ATL1) | ||
| ENST00000683703.1:n.364T>C (ATL1) | ||
| ENST00000683837.1:n.364T>C (ATL1) | ||
| ENST00000684737.1:n.364T>C (ATL1) | ||
| ENST00000358385.12:c.30T>C (ATL1) MANE Select | ENSP00000351155.7:p.Ser10= | |
| ENST00000674288.1:c.30T>C (ATL1) | ENSP00000501522.1:p.Ser10= | |
| ENST00000674478.1:n.364T>C (ATL1) | ||
| ENST00000358385.10:c.30T>C (ATL1) | ENSP00000351155.6:p.Ser10= | |
| ENST00000441560.6:c.30T>C (ATL1) | ENSP00000413675.2:p.Ser10= | |
| ENST00000553509.1:c.30T>C (ATL1) | ENSP00000450989.1:p.Ser10= | |
| ENST00000554886.1:c.-155T>C (ATL1) | ENSP00000452074.1:n.-155T>C | |
| ENST00000555216.5:c.-180+745A>G (MAP4K5) | ENSP00000452289.1:n.-180+745A>G | |
| ENST00000555960.5:c.30T>C (ATL1) | ENSP00000452506.1:p.Ser10= | |
| ENST00000556478.2:n.534T>C (ATL1) | ||
| ENST00000557735.1:c.-421T>C (ATL1) | ENSP00000451015.1:n.-421T>C | |
| NM_001127713.1:c.30T>C (ATL1) | NP_001121185.1:p.Ser10= | |
| NM_015915.4:c.30T>C (ATL1) | NP_056999.2:p.Ser10= | |
| NM_181598.3:c.30T>C (ATL1) | NP_853629.2:p.Ser10= | |
| XM_011536378.1:c.-180+745A>G (MAP4K5) | XP_011534680.1:n.-180+745A>G | |
| XM_011536378.3:c.-180+745A>G (MAP4K5) | XP_011534680.1:n.-180+745A>G | |
| XM_024449461.1:c.-196+745A>G (MAP4K5) | XP_024305229.1:n.-196+745A>G | |
| NM_015915.5:c.30T>C (ATL1) MANE Select | NP_056999.2:p.Ser10= | |
| NM_181598.4:c.30T>C (ATL1) | NP_853629.2:p.Ser10= |