Linked Data
ClinVar Variation Id:
411547
dbSNP Id:
rs755126540
ExAC:
5:112176212 G / A
gnomAD v2:
5-112176212-G-A
gnomAD v4:
5-112840515-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840515G>A , CM000667.2:g.112840515G>A | GRCh38 |
| NC_000005.9:g.112176212G>A , CM000667.1:g.112176212G>A | GRCh37 |
| NC_000005.8:g.112204111G>A | NCBI36 |
| NG_008481.4:g.152995G>A , LRG_130:g.152995G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4975G>A | ENSP00000473355.2:p.Val1659Met | |
| ENST00000505350.2:c.*4927G>A | ENSP00000481752.1:n.*4927G>A | |
| ENST00000507379.6:c.4867G>A | ENSP00000423224.2:p.Val1623Met | |
| ENST00000509732.6:c.4921G>A | ENSP00000426541.2:p.Val1641Met | |
| ENST00000512211.7:c.4921G>A | ENSP00000423828.3:p.Val1641Met | |
| ENST00000257430.9:c.4921G>A MANE Select | ENSP00000257430.4:p.Val1641Met | |
| ENST00000257430.8:c.4921G>A | ENSP00000257430.4:p.Val1641Met | |
| ENST00000508376.6:c.4921G>A | ENSP00000427089.2:p.Val1641Met | |
| ENST00000508624.5:c.*4243G>A | ENSP00000424265.1:n.*4243G>A | |
| ENST00000520401.1:c.230+11543G>A | ||
| NM_000038.5:c.4921G>A | NP_000029.2:p.Val1641Met | |
| NM_001127510.2:c.4921G>A | NP_001120982.1:p.Val1641Met | |
| NM_001127511.2:c.4867G>A | NP_001120983.2:p.Val1623Met | |
| NM_001354895.1:c.4921G>A | NP_001341824.1:p.Val1641Met | |
| NM_001354896.1:c.4975G>A | NP_001341825.1:p.Val1659Met | |
| NM_001354897.1:c.4951G>A | NP_001341826.1:p.Val1651Met | |
| NM_001354898.1:c.4846G>A | NP_001341827.1:p.Val1616Met | |
| NM_001354899.1:c.4837G>A | NP_001341828.1:p.Val1613Met | |
| NM_001354900.1:c.4798G>A | NP_001341829.1:p.Val1600Met | |
| NM_001354901.1:c.4744G>A | NP_001341830.1:p.Val1582Met | |
| NM_001354902.1:c.4648G>A | NP_001341831.1:p.Val1550Met | |
| NM_001354903.1:c.4618G>A | NP_001341832.1:p.Val1540Met | |
| NM_001354904.1:c.4543G>A | NP_001341833.1:p.Val1515Met | |
| NM_001354905.1:c.4441G>A | NP_001341834.1:p.Val1481Met | |
| NM_001354906.1:c.4072G>A | NP_001341835.1:p.Val1358Met | |
| NM_000038.6:c.4921G>A MANE Select | NP_000029.2:p.Val1641Met | |
| NM_001127510.3:c.4921G>A | NP_001120982.1:p.Val1641Met | |
| NM_001127511.3:c.4867G>A | NP_001120983.2:p.Val1623Met | |
| NM_001354895.2:c.4921G>A | NP_001341824.1:p.Val1641Met | |
| NM_001354896.2:c.4975G>A | NP_001341825.1:p.Val1659Met | |
| NM_001354897.2:c.4951G>A | NP_001341826.1:p.Val1651Met | |
| NM_001354898.2:c.4846G>A | NP_001341827.1:p.Val1616Met | |
| NM_001354899.2:c.4837G>A | NP_001341828.1:p.Val1613Met | |
| NM_001354900.2:c.4798G>A | NP_001341829.1:p.Val1600Met | |
| NM_001354901.2:c.4744G>A | NP_001341830.1:p.Val1582Met | |
| NM_001354902.2:c.4648G>A | NP_001341831.1:p.Val1550Met | |
| NM_001354903.2:c.4618G>A | NP_001341832.1:p.Val1540Met | |
| NM_001354904.2:c.4543G>A | NP_001341833.1:p.Val1515Met | |
| NM_001354905.2:c.4441G>A | NP_001341834.1:p.Val1481Met | |
| NM_001354906.2:c.4072G>A | NP_001341835.1:p.Val1358Met |