Linked Data
ClinVar Variation Id:
41501
dbSNP Id:
rs199740875
ExAC:
5:112173968 G / A
gnomAD v2:
5-112173968-G-A
gnomAD v3:
5-112838271-G-A
gnomAD v4:
5-112838271-G-A
PubMed:
PMID:22703879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838271G>A , CM000667.2:g.112838271G>A | GRCh38 |
| NC_000005.9:g.112173968G>A , CM000667.1:g.112173968G>A | GRCh37 |
| NC_000005.8:g.112201867G>A | NCBI36 |
| NG_008481.4:g.150751G>A , LRG_130:g.150751G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2342G>A | ENSP00000484935.2:n.2342G>A | |
| ENST00000504915.3:c.2731G>A | ENSP00000473355.2:p.Glu911Lys | |
| ENST00000505350.2:c.*2683G>A | ENSP00000481752.1:n.*2683G>A | |
| ENST00000507379.6:c.2623G>A | ENSP00000423224.2:p.Glu875Lys | |
| ENST00000509732.6:c.2677G>A | ENSP00000426541.2:p.Glu893Lys | |
| ENST00000512211.7:c.2677G>A | ENSP00000423828.3:p.Glu893Lys | |
| ENST00000257430.9:c.2677G>A MANE Select | ENSP00000257430.4:p.Glu893Lys | |
| ENST00000257430.8:c.2677G>A | ENSP00000257430.4:p.Glu893Lys | |
| ENST00000502371.2:c.1030G>A | ||
| ENST00000507379.5:c.2623G>A | ENSP00000423224.1:p.Glu875Lys | |
| ENST00000508376.6:c.2677G>A | ENSP00000427089.2:p.Glu893Lys | |
| ENST00000508624.5:c.*1999G>A | ENSP00000424265.1:n.*1999G>A | |
| ENST00000512211.6:c.2677G>A | ENSP00000423828.2:p.Glu893Lys | |
| ENST00000520401.1:c.230+9299G>A | ||
| NM_000038.5:c.2677G>A | NP_000029.2:p.Glu893Lys | |
| NM_001127510.2:c.2677G>A | NP_001120982.1:p.Glu893Lys | |
| NM_001127511.2:c.2623G>A | NP_001120983.2:p.Glu875Lys | |
| NM_001354895.1:c.2677G>A | NP_001341824.1:p.Glu893Lys | |
| NM_001354896.1:c.2731G>A | NP_001341825.1:p.Glu911Lys | |
| NM_001354897.1:c.2707G>A | NP_001341826.1:p.Glu903Lys | |
| NM_001354898.1:c.2602G>A | NP_001341827.1:p.Glu868Lys | |
| NM_001354899.1:c.2593G>A | NP_001341828.1:p.Glu865Lys | |
| NM_001354900.1:c.2554G>A | NP_001341829.1:p.Glu852Lys | |
| NM_001354901.1:c.2500G>A | NP_001341830.1:p.Glu834Lys | |
| NM_001354902.1:c.2404G>A | NP_001341831.1:p.Glu802Lys | |
| NM_001354903.1:c.2374G>A | NP_001341832.1:p.Glu792Lys | |
| NM_001354904.1:c.2299G>A | NP_001341833.1:p.Glu767Lys | |
| NM_001354905.1:c.2197G>A | NP_001341834.1:p.Glu733Lys | |
| NM_001354906.1:c.1828G>A | NP_001341835.1:p.Glu610Lys | |
| NM_000038.6:c.2677G>A MANE Select | NP_000029.2:p.Glu893Lys | |
| NM_001127510.3:c.2677G>A | NP_001120982.1:p.Glu893Lys | |
| NM_001127511.3:c.2623G>A | NP_001120983.2:p.Glu875Lys | |
| NM_001354895.2:c.2677G>A | NP_001341824.1:p.Glu893Lys | |
| NM_001354896.2:c.2731G>A | NP_001341825.1:p.Glu911Lys | |
| NM_001354897.2:c.2707G>A | NP_001341826.1:p.Glu903Lys | |
| NM_001354898.2:c.2602G>A | NP_001341827.1:p.Glu868Lys | |
| NM_001354899.2:c.2593G>A | NP_001341828.1:p.Glu865Lys | |
| NM_001354900.2:c.2554G>A | NP_001341829.1:p.Glu852Lys | |
| NM_001354901.2:c.2500G>A | NP_001341830.1:p.Glu834Lys | |
| NM_001354902.2:c.2404G>A | NP_001341831.1:p.Glu802Lys | |
| NM_001354903.2:c.2374G>A | NP_001341832.1:p.Glu792Lys | |
| NM_001354904.2:c.2299G>A | NP_001341833.1:p.Glu767Lys | |
| NM_001354905.2:c.2197G>A | NP_001341834.1:p.Glu733Lys | |
| NM_001354906.2:c.1828G>A | NP_001341835.1:p.Glu610Lys |