Linked Data
ClinVar Variation Id:
141690
ClinVar RCV Id:
RCV000130304
RCV000765791
RCV001549810
RCV002469020
RCV003998055
RCV003430706
RCV003764867
dbSNP Id:
rs538289470
ExAC:
5:112179567 G / A
gnomAD v2:
5-112179567-G-A
gnomAD v3:
5-112843870-G-A
gnomAD v4:
5-112843870-G-A
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843870G>A , CM000667.2:g.112843870G>A | GRCh38 |
| NC_000005.9:g.112179567G>A , CM000667.1:g.112179567G>A | GRCh37 |
| NC_000005.8:g.112207466G>A | NCBI36 |
| NG_008481.4:g.156350G>A , LRG_130:g.156350G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8330G>A | ENSP00000473355.2:p.Arg2777His | |
| ENST00000505350.2:c.*8282G>A | ENSP00000481752.1:n.*8282G>A | |
| ENST00000507379.6:c.8222G>A | ENSP00000423224.2:p.Arg2741His | |
| ENST00000509732.6:c.8276G>A | ENSP00000426541.2:p.Arg2759His | |
| ENST00000512211.7:c.8276G>A | ENSP00000423828.3:p.Arg2759His | |
| ENST00000257430.9:c.8276G>A MANE Select | ENSP00000257430.4:p.Arg2759His | |
| ENST00000257430.8:c.8276G>A | ENSP00000257430.4:p.Arg2759His | |
| ENST00000508376.6:c.8276G>A | ENSP00000427089.2:p.Arg2759His | |
| ENST00000520401.1:c.231-12779G>A | ||
| NM_000038.5:c.8276G>A | NP_000029.2:p.Arg2759His | |
| NM_001127510.2:c.8276G>A | NP_001120982.1:p.Arg2759His | |
| NM_001127511.2:c.8222G>A | NP_001120983.2:p.Arg2741His | |
| NM_001354895.1:c.8276G>A | NP_001341824.1:p.Arg2759His | |
| NM_001354896.1:c.8330G>A | NP_001341825.1:p.Arg2777His | |
| NM_001354897.1:c.8306G>A | NP_001341826.1:p.Arg2769His | |
| NM_001354898.1:c.8201G>A | NP_001341827.1:p.Arg2734His | |
| NM_001354899.1:c.8192G>A | NP_001341828.1:p.Arg2731His | |
| NM_001354900.1:c.8153G>A | NP_001341829.1:p.Arg2718His | |
| NM_001354901.1:c.8099G>A | NP_001341830.1:p.Arg2700His | |
| NM_001354902.1:c.8003G>A | NP_001341831.1:p.Arg2668His | |
| NM_001354903.1:c.7973G>A | NP_001341832.1:p.Arg2658His | |
| NM_001354904.1:c.7898G>A | NP_001341833.1:p.Arg2633His | |
| NM_001354905.1:c.7796G>A | NP_001341834.1:p.Arg2599His | |
| NM_001354906.1:c.7427G>A | NP_001341835.1:p.Arg2476His | |
| NM_000038.6:c.8276G>A MANE Select | NP_000029.2:p.Arg2759His | |
| NM_001127510.3:c.8276G>A | NP_001120982.1:p.Arg2759His | |
| NM_001127511.3:c.8222G>A | NP_001120983.2:p.Arg2741His | |
| NM_001354895.2:c.8276G>A | NP_001341824.1:p.Arg2759His | |
| NM_001354896.2:c.8330G>A | NP_001341825.1:p.Arg2777His | |
| NM_001354897.2:c.8306G>A | NP_001341826.1:p.Arg2769His | |
| NM_001354898.2:c.8201G>A | NP_001341827.1:p.Arg2734His | |
| NM_001354899.2:c.8192G>A | NP_001341828.1:p.Arg2731His | |
| NM_001354900.2:c.8153G>A | NP_001341829.1:p.Arg2718His | |
| NM_001354901.2:c.8099G>A | NP_001341830.1:p.Arg2700His | |
| NM_001354902.2:c.8003G>A | NP_001341831.1:p.Arg2668His | |
| NM_001354903.2:c.7973G>A | NP_001341832.1:p.Arg2658His | |
| NM_001354904.2:c.7898G>A | NP_001341833.1:p.Arg2633His | |
| NM_001354905.2:c.7796G>A | NP_001341834.1:p.Arg2599His | |
| NM_001354906.2:c.7427G>A | NP_001341835.1:p.Arg2476His |