Linked Data
ClinVar Variation Id:
430821
dbSNP Id:
rs190929421
ExAC:
19:36224674 G / A
gnomAD v2:
19-36224674-G-A
gnomAD v3:
19-35733773-G-A
gnomAD v4:
19-35733773-G-A
PubMed:
PMID:29255178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35733773G>A , CM000681.2:g.35733773G>A | GRCh38 |
| NC_000019.9:g.36224674G>A , CM000681.1:g.36224674G>A | GRCh37 |
| NC_000019.8:g.40916514G>A | NCBI36 |
| NG_052906.1:g.20755G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.1530G>A | ||
| ENST00000673918.2:c.6994G>A | ENSP00000501283.1:p.Glu2332Lys | |
| ENST00000674114.2:c.4601G>A | ENSP00000501039.2:n.4601G>A | |
| ENST00000684977.1:c.2255G>A | ENSP00000509384.1:n.2255G>A | |
| ENST00000689544.1:n.2301G>A | ||
| ENST00000689929.1:c.11G>A | ||
| ENST00000691421.1:c.2191G>A | ENSP00000508674.1:p.Glu731Lys | |
| ENST00000691855.1:c.6602G>A | ||
| ENST00000692961.1:c.6984G>A | ENSP00000509289.1:p.Arg2328= | |
| ENST00000693175.1:c.11G>A | ||
| ENST00000693677.1:c.805G>A | ENSP00000509779.1:p.Glu269Lys | |
| ENST00000420124.4:c.7060G>A MANE Select | ENSP00000398837.2:p.Glu2354Lys | |
| ENST00000673918.1:c.6994G>A | ENSP00000501283.1:p.Glu2332Lys | |
| ENST00000674114.1:c.4382G>A | ||
| ENST00000420124.2:c.7060G>A | ENSP00000398837.1:p.Glu2354Lys | |
| ENST00000592092.1:n.440G>A | ||
| NM_014727.2:c.7060G>A | NP_055542.1:p.Glu2354Lys | |
| XM_011527561.1:c.6994G>A | XP_011525863.1:p.Glu2332Lys | |
| XM_011527562.1:c.7060G>A | XP_011525864.1:p.Glu2354Lys | |
| XM_011527563.1:c.6784G>A | XP_011525865.1:p.Glu2262Lys | |
| XM_011527561.2:c.6496G>A | XP_011525863.2:p.Glu2166Lys | |
| XM_011527562.2:c.7060G>A | XP_011525864.1:p.Glu2354Lys | |
| XM_017027544.1:c.6970G>A | XP_016883033.1:p.Glu2324Lys | |
| XM_017027545.1:c.6496G>A | XP_016883034.1:p.Glu2166Lys | |
| XM_017027546.1:c.4024G>A | XP_016883035.1:p.Glu1342Lys | |
| NM_014727.3:c.7060G>A MANE Select | NP_055542.1:p.Glu2354Lys |