Linked Data
ClinVar Variation Id:
642014
dbSNP Id:
rs1420016889
gnomAD v2:
5-112174326-A-G
gnomAD v4:
5-112838629-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838629A>G , CM000667.2:g.112838629A>G | GRCh38 |
| NC_000005.9:g.112174326A>G , CM000667.1:g.112174326A>G | GRCh37 |
| NC_000005.8:g.112202225A>G | NCBI36 |
| NG_008481.4:g.151109A>G , LRG_130:g.151109A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2700A>G | ENSP00000484935.2:n.2700A>G | |
| ENST00000504915.3:c.3089A>G | ENSP00000473355.2:p.Asn1030Ser | |
| ENST00000505350.2:c.*3041A>G | ENSP00000481752.1:n.*3041A>G | |
| ENST00000507379.6:c.2981A>G | ENSP00000423224.2:p.Asn994Ser | |
| ENST00000509732.6:c.3035A>G | ENSP00000426541.2:p.Asn1012Ser | |
| ENST00000512211.7:c.3035A>G | ENSP00000423828.3:p.Asn1012Ser | |
| ENST00000257430.9:c.3035A>G MANE Select | ENSP00000257430.4:p.Asn1012Ser | |
| ENST00000257430.8:c.3035A>G | ENSP00000257430.4:p.Asn1012Ser | |
| ENST00000502371.2:c.1388A>G | ||
| ENST00000507379.5:c.2981A>G | ENSP00000423224.1:p.Asn994Ser | |
| ENST00000508376.6:c.3035A>G | ENSP00000427089.2:p.Asn1012Ser | |
| ENST00000508624.5:c.*2357A>G | ENSP00000424265.1:n.*2357A>G | |
| ENST00000512211.6:c.3035A>G | ENSP00000423828.2:p.Asn1012Ser | |
| ENST00000520401.1:c.230+9657A>G | ||
| NM_000038.5:c.3035A>G | NP_000029.2:p.Asn1012Ser | |
| NM_001127510.2:c.3035A>G | NP_001120982.1:p.Asn1012Ser | |
| NM_001127511.2:c.2981A>G | NP_001120983.2:p.Asn994Ser | |
| NM_001354895.1:c.3035A>G | NP_001341824.1:p.Asn1012Ser | |
| NM_001354896.1:c.3089A>G | NP_001341825.1:p.Asn1030Ser | |
| NM_001354897.1:c.3065A>G | NP_001341826.1:p.Asn1022Ser | |
| NM_001354898.1:c.2960A>G | NP_001341827.1:p.Asn987Ser | |
| NM_001354899.1:c.2951A>G | NP_001341828.1:p.Asn984Ser | |
| NM_001354900.1:c.2912A>G | NP_001341829.1:p.Asn971Ser | |
| NM_001354901.1:c.2858A>G | NP_001341830.1:p.Asn953Ser | |
| NM_001354902.1:c.2762A>G | NP_001341831.1:p.Asn921Ser | |
| NM_001354903.1:c.2732A>G | NP_001341832.1:p.Asn911Ser | |
| NM_001354904.1:c.2657A>G | NP_001341833.1:p.Asn886Ser | |
| NM_001354905.1:c.2555A>G | NP_001341834.1:p.Asn852Ser | |
| NM_001354906.1:c.2186A>G | NP_001341835.1:p.Asn729Ser | |
| NM_000038.6:c.3035A>G MANE Select | NP_000029.2:p.Asn1012Ser | |
| NM_001127510.3:c.3035A>G | NP_001120982.1:p.Asn1012Ser | |
| NM_001127511.3:c.2981A>G | NP_001120983.2:p.Asn994Ser | |
| NM_001354895.2:c.3035A>G | NP_001341824.1:p.Asn1012Ser | |
| NM_001354896.2:c.3089A>G | NP_001341825.1:p.Asn1030Ser | |
| NM_001354897.2:c.3065A>G | NP_001341826.1:p.Asn1022Ser | |
| NM_001354898.2:c.2960A>G | NP_001341827.1:p.Asn987Ser | |
| NM_001354899.2:c.2951A>G | NP_001341828.1:p.Asn984Ser | |
| NM_001354900.2:c.2912A>G | NP_001341829.1:p.Asn971Ser | |
| NM_001354901.2:c.2858A>G | NP_001341830.1:p.Asn953Ser | |
| NM_001354902.2:c.2762A>G | NP_001341831.1:p.Asn921Ser | |
| NM_001354903.2:c.2732A>G | NP_001341832.1:p.Asn911Ser | |
| NM_001354904.2:c.2657A>G | NP_001341833.1:p.Asn886Ser | |
| NM_001354905.2:c.2555A>G | NP_001341834.1:p.Asn852Ser | |
| NM_001354906.2:c.2186A>G | NP_001341835.1:p.Asn729Ser |