Linked Data
ClinVar Variation Id:
2071640
ClinVar RCV Id:
RCV002975738
dbSNP Id:
rs72552772
ExAC:
7:75615483 G / A
gnomAD v2:
7-75615483-G-A
gnomAD v3:
7-75986165-G-A
gnomAD v4:
7-75986165-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75986165G>A , CM000669.2:g.75986165G>A | GRCh38 |
| NC_000007.13:g.75615483G>A , CM000669.1:g.75615483G>A | GRCh37 |
| NC_000007.12:g.75453419G>A | NCBI36 |
| NG_008930.1:g.76064G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475509.2:c.1597G>A | ENSP00000516446.1:p.Val533Ile | |
| ENST00000706544.1:c.1723G>A | ENSP00000516442.1:p.Val575Ile | |
| ENST00000706545.1:c.1822G>A | ENSP00000516443.1:p.Val608Ile | |
| ENST00000706546.1:c.1822G>A | ENSP00000516444.1:p.Val608Ile | |
| ENST00000706547.1:c.1822G>A | ENSP00000516445.1:p.Val608Ile | |
| ENST00000461988.6:c.1822G>A MANE Select | ENSP00000419970.1:p.Val608Ile | |
| ENST00000394893.5:c.1822G>A | ENSP00000378355.1:p.Val608Ile | |
| ENST00000412064.6:c.*124G>A | ENSP00000404731.2:n.*124G>A | |
| ENST00000439269.1:c.1036G>A | ENSP00000412490.1:p.Val346Ile | |
| ENST00000447222.5:c.1973G>A | ||
| ENST00000454934.5:c.*1127G>A | ENSP00000414263.1:n.*1127G>A | |
| ENST00000461988.5:c.1822G>A | ENSP00000419970.1:p.Val608Ile | |
| ENST00000493973.1:n.433G>A | ||
| NM_000941.2:c.1822G>A | NP_000932.3:p.Val608Ile | |
| NM_000941.3:c.1822G>A | NP_000932.3:p.Val608Ile | |
| NM_001367562.1:c.1822G>A | NP_001354491.1:p.Val608Ile | |
| NM_001382655.1:c.1876G>A | NP_001369584.1:p.Val626Ile | |
| NM_001382657.1:c.1822G>A | NP_001369586.1:p.Val608Ile | |
| NM_001382658.1:c.1822G>A | NP_001369587.1:p.Val608Ile | |
| NM_001382659.1:c.1822G>A | NP_001369588.1:p.Val608Ile | |
| NM_001382662.1:c.1672G>A | NP_001369591.1:p.Val558Ile | |
| NM_001367562.3:c.1813G>A | NP_001354491.2:p.Val605Ile | |
| NM_001382655.3:c.1867G>A | NP_001369584.2:p.Val623Ile | |
| NM_001382657.2:c.1813G>A | NP_001369586.2:p.Val605Ile | |
| NM_001382658.3:c.1813G>A | NP_001369587.2:p.Val605Ile | |
| NM_001382659.3:c.1813G>A | NP_001369588.2:p.Val605Ile | |
| NM_001382662.3:c.1663G>A | NP_001369591.2:p.Val555Ile | |
| NM_001395413.1:c.1813G>A MANE Select | NP_001382342.1:p.Val605Ile |