Linked Data
ClinVar Variation Id:
193395
dbSNP Id:
rs1128141
ExAC:
4:56262374 A / G
gnomAD v2:
4-56262374-A-G
gnomAD v3:
4-55396207-A-G
gnomAD v4:
4-55396207-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55396207A>G , CM000666.2:g.55396207A>G | GRCh38 |
| NC_000004.11:g.56262374A>G , CM000666.1:g.56262374A>G | GRCh37 |
| NC_000004.10:g.55957131A>G | NCBI36 |
| NG_032881.1:g.5295A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381334.10:c.18A>G MANE Select | ENSP00000370736.5:p.Pro6= | |
| ENST00000381334.9:c.18A>G | ENSP00000370736.5:p.Pro6= | |
| ENST00000506198.5:c.18A>G | ENSP00000425449.1:p.Pro6= | |
| ENST00000508404.5:c.18A>G | ENSP00000422639.1:p.Pro6= | |
| NM_018475.4:c.18A>G | NP_060945.2:p.Pro6= | |
| NR_073070.1:n.295A>G | ||
| XM_011534394.1:c.18A>G | XP_011532696.1:p.Pro6= | |
| XM_011534394.3:c.18A>G | XP_011532696.1:p.Pro6= | |
| XR_001741287.2:n.555A>G | ||
| NM_018475.5:c.18A>G MANE Select | NP_060945.2:p.Pro6= | |
| NR_073070.2:n.251A>G |