Linked Data
ClinVar Variation Id:
482397
dbSNP Id:
rs746961162
ExAC:
5:112179519 A / G
gnomAD v2:
5-112179519-A-G
gnomAD v3:
5-112843822-A-G
gnomAD v4:
5-112843822-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843822A>G , CM000667.2:g.112843822A>G | GRCh38 |
| NC_000005.9:g.112179519A>G , CM000667.1:g.112179519A>G | GRCh37 |
| NC_000005.8:g.112207418A>G | NCBI36 |
| NG_008481.4:g.156302A>G , LRG_130:g.156302A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8282A>G | ENSP00000473355.2:p.Asn2761Ser | |
| ENST00000505350.2:c.*8234A>G | ENSP00000481752.1:n.*8234A>G | |
| ENST00000507379.6:c.8174A>G | ENSP00000423224.2:p.Asn2725Ser | |
| ENST00000509732.6:c.8228A>G | ENSP00000426541.2:p.Asn2743Ser | |
| ENST00000512211.7:c.8228A>G | ENSP00000423828.3:p.Asn2743Ser | |
| ENST00000257430.9:c.8228A>G MANE Select | ENSP00000257430.4:p.Asn2743Ser | |
| ENST00000257430.8:c.8228A>G | ENSP00000257430.4:p.Asn2743Ser | |
| ENST00000508376.6:c.8228A>G | ENSP00000427089.2:p.Asn2743Ser | |
| ENST00000520401.1:c.231-12827A>G | ||
| NM_000038.5:c.8228A>G | NP_000029.2:p.Asn2743Ser | |
| NM_001127510.2:c.8228A>G | NP_001120982.1:p.Asn2743Ser | |
| NM_001127511.2:c.8174A>G | NP_001120983.2:p.Asn2725Ser | |
| NM_001354895.1:c.8228A>G | NP_001341824.1:p.Asn2743Ser | |
| NM_001354896.1:c.8282A>G | NP_001341825.1:p.Asn2761Ser | |
| NM_001354897.1:c.8258A>G | NP_001341826.1:p.Asn2753Ser | |
| NM_001354898.1:c.8153A>G | NP_001341827.1:p.Asn2718Ser | |
| NM_001354899.1:c.8144A>G | NP_001341828.1:p.Asn2715Ser | |
| NM_001354900.1:c.8105A>G | NP_001341829.1:p.Asn2702Ser | |
| NM_001354901.1:c.8051A>G | NP_001341830.1:p.Asn2684Ser | |
| NM_001354902.1:c.7955A>G | NP_001341831.1:p.Asn2652Ser | |
| NM_001354903.1:c.7925A>G | NP_001341832.1:p.Asn2642Ser | |
| NM_001354904.1:c.7850A>G | NP_001341833.1:p.Asn2617Ser | |
| NM_001354905.1:c.7748A>G | NP_001341834.1:p.Asn2583Ser | |
| NM_001354906.1:c.7379A>G | NP_001341835.1:p.Asn2460Ser | |
| NM_000038.6:c.8228A>G MANE Select | NP_000029.2:p.Asn2743Ser | |
| NM_001127510.3:c.8228A>G | NP_001120982.1:p.Asn2743Ser | |
| NM_001127511.3:c.8174A>G | NP_001120983.2:p.Asn2725Ser | |
| NM_001354895.2:c.8228A>G | NP_001341824.1:p.Asn2743Ser | |
| NM_001354896.2:c.8282A>G | NP_001341825.1:p.Asn2761Ser | |
| NM_001354897.2:c.8258A>G | NP_001341826.1:p.Asn2753Ser | |
| NM_001354898.2:c.8153A>G | NP_001341827.1:p.Asn2718Ser | |
| NM_001354899.2:c.8144A>G | NP_001341828.1:p.Asn2715Ser | |
| NM_001354900.2:c.8105A>G | NP_001341829.1:p.Asn2702Ser | |
| NM_001354901.2:c.8051A>G | NP_001341830.1:p.Asn2684Ser | |
| NM_001354902.2:c.7955A>G | NP_001341831.1:p.Asn2652Ser | |
| NM_001354903.2:c.7925A>G | NP_001341832.1:p.Asn2642Ser | |
| NM_001354904.2:c.7850A>G | NP_001341833.1:p.Asn2617Ser | |
| NM_001354905.2:c.7748A>G | NP_001341834.1:p.Asn2583Ser | |
| NM_001354906.2:c.7379A>G | NP_001341835.1:p.Asn2460Ser |