Linked Data
ClinVar Variation Id:
726075
ClinVar RCV Id:
RCV000900235
dbSNP Id:
rs901646478
gnomAD v2:
19-36223624-T-C
gnomAD v3:
19-35732723-T-C
gnomAD v4:
19-35732723-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732723T>C , CM000681.2:g.35732723T>C | GRCh38 |
| NC_000019.9:g.36223624T>C , CM000681.1:g.36223624T>C | GRCh37 |
| NC_000019.8:g.40915464T>C | NCBI36 |
| NG_052906.1:g.19705T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.480T>C | ||
| ENST00000673918.2:c.6108T>C | ENSP00000501283.1:p.Ile2036= | |
| ENST00000674114.2:c.3715T>C | ENSP00000501039.2:n.3715T>C | |
| ENST00000684977.1:c.1392T>C | ENSP00000509384.1:p.Ile464= | |
| ENST00000689544.1:n.1327T>C | ||
| ENST00000691421.1:c.1395T>C | ENSP00000508674.1:p.Ile465= | |
| ENST00000691855.1:c.5716T>C | ||
| ENST00000692961.1:c.6174T>C | ENSP00000509289.1:p.Ile2058= | |
| ENST00000693677.1:c.704+394T>C | ENSP00000509779.1:n.704+394T>C | |
| ENST00000420124.4:c.6174T>C MANE Select | ENSP00000398837.2:p.Ile2058= | |
| ENST00000673918.1:c.6108T>C | ENSP00000501283.1:p.Ile2036= | |
| ENST00000674114.1:c.3496T>C | ||
| ENST00000420124.2:c.6174T>C | ENSP00000398837.1:p.Ile2058= | |
| NM_014727.2:c.6174T>C | NP_055542.1:p.Ile2058= | |
| XM_011527561.1:c.6108T>C | XP_011525863.1:p.Ile2036= | |
| XM_011527562.1:c.6174T>C | XP_011525864.1:p.Ile2058= | |
| XM_011527563.1:c.5898T>C | XP_011525865.1:p.Ile1966= | |
| XM_011527561.2:c.5610T>C | XP_011525863.2:p.Ile1870= | |
| XM_011527562.2:c.6174T>C | XP_011525864.1:p.Ile2058= | |
| XM_017027544.1:c.6174T>C | XP_016883033.1:p.Ile2058= | |
| XM_017027545.1:c.5610T>C | XP_016883034.1:p.Ile1870= | |
| XM_017027546.1:c.3138T>C | XP_016883035.1:p.Ile1046= | |
| NM_014727.3:c.6174T>C MANE Select | NP_055542.1:p.Ile2058= |