Linked Data
dbSNP Id:
rs66944506
ExAC:
19:45296846 A / AC
gnomAD v2:
19-45296846-A-AC
gnomAD v3:
19-44793589-A-AC
gnomAD v4:
19-44793589-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44793591dup , CM000681.2:g.44793591dup | GRCh38 |
| NC_000019.9:g.45296848dup , CM000681.1:g.45296848dup | GRCh37 |
| NC_000019.8:g.49988688dup | NCBI36 |
| NG_054718.1:g.20737dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647358.2:c.1255dup MANE Select | ENSP00000494162.1:p.Gln419ProfsTer? | |
| ENST00000270279.7:c.1255dup | ENSP00000270279.3:p.Gln419ProfsTer? | |
| ENST00000341505.4:c.1117dup | ENSP00000340250.4:p.Gln373ProfsTer? | |
| NM_001130852.1:c.1117dup | NP_001124324.1:p.Gln373ProfsTer? | |
| NM_012116.3:c.1255dup | NP_036248.3:p.Gln419ProfsTer? | |
| XM_005258696.2:c.1255dup | XP_005258753.1:p.Gln419ProfsTer? | |
| XM_011526688.1:c.1255dup | XP_011524990.1:p.Gln419ProfsTer? | |
| XM_011526689.1:c.1117dup | XP_011524991.1:p.Gln373ProfsTer? | |
| XR_935783.1:n.1202dup | ||
| NM_012116.4:c.1255dup MANE Select | NP_036248.3:p.Gln419ProfsTer? | |
| XM_005258696.3:c.1255dup | XP_005258753.1:p.Gln419ProfsTer? | |
| XM_011526688.2:c.1255dup | XP_011524990.1:p.Gln419ProfsTer? | |
| XM_011526689.2:c.1117dup | XP_011524991.1:p.Gln373ProfsTer? | |
| XR_935783.2:n.1207dup |