Linked Data
dbSNP Id:
rs762865111
ExAC:
19:45296787 CGT / C
gnomAD v2:
19-45296787-CGT-C
gnomAD v3:
19-44793530-CGT-C
gnomAD v4:
19-44793530-CGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44793532_44793533del , CM000681.2:g.44793532_44793533del | GRCh38 |
| NC_000019.9:g.45296789_45296790del , CM000681.1:g.45296789_45296790del | GRCh37 |
| NC_000019.8:g.49988629_49988630del | NCBI36 |
| NG_054718.1:g.20678_20679del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647358.2:c.1196_1197del MANE Select | ENSP00000494162.1:p.Val399GlufsTer12 | |
| ENST00000270279.7:c.1196_1197del | ENSP00000270279.3:p.Val399GlufsTer12 | |
| ENST00000341505.4:c.1058_1059del | ENSP00000340250.4:p.Val353GlufsTer12 | |
| NM_001130852.1:c.1058_1059del | NP_001124324.1:p.Val353GlufsTer12 | |
| NM_012116.3:c.1196_1197del | NP_036248.3:p.Val399GlufsTer12 | |
| XM_005258696.2:c.1196_1197del | XP_005258753.1:p.Val399GlufsTer12 | |
| XM_011526688.1:c.1196_1197del | XP_011524990.1:p.Val399GlufsTer12 | |
| XM_011526689.1:c.1058_1059del | XP_011524991.1:p.Val353GlufsTer12 | |
| XR_935783.1:n.1143_1144del | ||
| NM_012116.4:c.1196_1197del MANE Select | NP_036248.3:p.Val399GlufsTer12 | |
| XM_005258696.3:c.1196_1197del | XP_005258753.1:p.Val399GlufsTer12 | |
| XM_011526688.2:c.1196_1197del | XP_011524990.1:p.Val399GlufsTer12 | |
| XM_011526689.2:c.1058_1059del | XP_011524991.1:p.Val353GlufsTer12 | |
| XR_935783.2:n.1148_1149del |