Linked Data
ClinVar Variation Id:
2972187
ClinVar RCV Id:
RCV003835313
dbSNP Id:
rs764034242
ExAC:
19:36223553 A / G
gnomAD v2:
19-36223553-A-G
gnomAD v3:
19-35732652-A-G
gnomAD v4:
19-35732652-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732652A>G , CM000681.2:g.35732652A>G | GRCh38 |
| NC_000019.9:g.36223553A>G , CM000681.1:g.36223553A>G | GRCh37 |
| NC_000019.8:g.40915393A>G | NCBI36 |
| NG_052906.1:g.19634A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.409A>G | ||
| ENST00000673918.2:c.6037A>G | ENSP00000501283.1:p.Ile2013Val | |
| ENST00000674114.2:c.3644A>G | ENSP00000501039.2:n.3644A>G | |
| ENST00000684977.1:c.1321A>G | ENSP00000509384.1:p.Ile441Val | |
| ENST00000689544.1:n.1256A>G | ||
| ENST00000691421.1:c.1324A>G | ENSP00000508674.1:p.Ile442Val | |
| ENST00000691855.1:c.5645A>G | ||
| ENST00000692961.1:c.6103A>G | ENSP00000509289.1:p.Ile2035Val | |
| ENST00000693677.1:c.704+323A>G | ENSP00000509779.1:n.704+323A>G | |
| ENST00000420124.4:c.6103A>G MANE Select | ENSP00000398837.2:p.Ile2035Val | |
| ENST00000673918.1:c.6037A>G | ENSP00000501283.1:p.Ile2013Val | |
| ENST00000674114.1:c.3425A>G | ||
| ENST00000420124.2:c.6103A>G | ENSP00000398837.1:p.Ile2035Val | |
| NM_014727.2:c.6103A>G | NP_055542.1:p.Ile2035Val | |
| XM_011527561.1:c.6037A>G | XP_011525863.1:p.Ile2013Val | |
| XM_011527562.1:c.6103A>G | XP_011525864.1:p.Ile2035Val | |
| XM_011527563.1:c.5827A>G | XP_011525865.1:p.Ile1943Val | |
| XM_011527561.2:c.5539A>G | XP_011525863.2:p.Ile1847Val | |
| XM_011527562.2:c.6103A>G | XP_011525864.1:p.Ile2035Val | |
| XM_017027544.1:c.6103A>G | XP_016883033.1:p.Ile2035Val | |
| XM_017027545.1:c.5539A>G | XP_016883034.1:p.Ile1847Val | |
| XM_017027546.1:c.3067A>G | XP_016883035.1:p.Ile1023Val | |
| NM_014727.3:c.6103A>G MANE Select | NP_055542.1:p.Ile2035Val |