Linked Data
ClinVar Variation Id:
216160
dbSNP Id:
rs753209586
ExAC:
5:112174632 G / A
gnomAD v2:
5-112174632-G-A
gnomAD v3:
5-112838935-G-A
gnomAD v4:
5-112838935-G-A
PubMed:
PMID:28135145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838935G>A , CM000667.2:g.112838935G>A | GRCh38 |
| NC_000005.9:g.112174632G>A , CM000667.1:g.112174632G>A | GRCh37 |
| NC_000005.8:g.112202531G>A | NCBI36 |
| NG_008481.4:g.151415G>A , LRG_130:g.151415G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3006G>A | ENSP00000484935.2:n.3006G>A | |
| ENST00000504915.3:c.3395G>A | ENSP00000473355.2:p.Arg1132Gln | |
| ENST00000505350.2:c.*3347G>A | ENSP00000481752.1:n.*3347G>A | |
| ENST00000507379.6:c.3287G>A | ENSP00000423224.2:p.Arg1096Gln | |
| ENST00000509732.6:c.3341G>A | ENSP00000426541.2:p.Arg1114Gln | |
| ENST00000512211.7:c.3341G>A | ENSP00000423828.3:p.Arg1114Gln | |
| ENST00000257430.9:c.3341G>A MANE Select | ENSP00000257430.4:p.Arg1114Gln | |
| ENST00000257430.8:c.3341G>A | ENSP00000257430.4:p.Arg1114Gln | |
| ENST00000502371.2:c.1694G>A | ||
| ENST00000507379.5:c.3287G>A | ENSP00000423224.1:p.Arg1096Gln | |
| ENST00000508376.6:c.3341G>A | ENSP00000427089.2:p.Arg1114Gln | |
| ENST00000508624.5:c.*2663G>A | ENSP00000424265.1:n.*2663G>A | |
| ENST00000512211.6:c.3341G>A | ENSP00000423828.2:p.Arg1114Gln | |
| ENST00000520401.1:c.230+9963G>A | ||
| NM_000038.5:c.3341G>A | NP_000029.2:p.Arg1114Gln | |
| NM_001127510.2:c.3341G>A | NP_001120982.1:p.Arg1114Gln | |
| NM_001127511.2:c.3287G>A | NP_001120983.2:p.Arg1096Gln | |
| NM_001354895.1:c.3341G>A | NP_001341824.1:p.Arg1114Gln | |
| NM_001354896.1:c.3395G>A | NP_001341825.1:p.Arg1132Gln | |
| NM_001354897.1:c.3371G>A | NP_001341826.1:p.Arg1124Gln | |
| NM_001354898.1:c.3266G>A | NP_001341827.1:p.Arg1089Gln | |
| NM_001354899.1:c.3257G>A | NP_001341828.1:p.Arg1086Gln | |
| NM_001354900.1:c.3218G>A | NP_001341829.1:p.Arg1073Gln | |
| NM_001354901.1:c.3164G>A | NP_001341830.1:p.Arg1055Gln | |
| NM_001354902.1:c.3068G>A | NP_001341831.1:p.Arg1023Gln | |
| NM_001354903.1:c.3038G>A | NP_001341832.1:p.Arg1013Gln | |
| NM_001354904.1:c.2963G>A | NP_001341833.1:p.Arg988Gln | |
| NM_001354905.1:c.2861G>A | NP_001341834.1:p.Arg954Gln | |
| NM_001354906.1:c.2492G>A | NP_001341835.1:p.Arg831Gln | |
| NM_000038.6:c.3341G>A MANE Select | NP_000029.2:p.Arg1114Gln | |
| NM_001127510.3:c.3341G>A | NP_001120982.1:p.Arg1114Gln | |
| NM_001127511.3:c.3287G>A | NP_001120983.2:p.Arg1096Gln | |
| NM_001354895.2:c.3341G>A | NP_001341824.1:p.Arg1114Gln | |
| NM_001354896.2:c.3395G>A | NP_001341825.1:p.Arg1132Gln | |
| NM_001354897.2:c.3371G>A | NP_001341826.1:p.Arg1124Gln | |
| NM_001354898.2:c.3266G>A | NP_001341827.1:p.Arg1089Gln | |
| NM_001354899.2:c.3257G>A | NP_001341828.1:p.Arg1086Gln | |
| NM_001354900.2:c.3218G>A | NP_001341829.1:p.Arg1073Gln | |
| NM_001354901.2:c.3164G>A | NP_001341830.1:p.Arg1055Gln | |
| NM_001354902.2:c.3068G>A | NP_001341831.1:p.Arg1023Gln | |
| NM_001354903.2:c.3038G>A | NP_001341832.1:p.Arg1013Gln | |
| NM_001354904.2:c.2963G>A | NP_001341833.1:p.Arg988Gln | |
| NM_001354905.2:c.2861G>A | NP_001341834.1:p.Arg954Gln | |
| NM_001354906.2:c.2492G>A | NP_001341835.1:p.Arg831Gln |