Linked Data
ClinVar Variation Id:
646667
dbSNP Id:
rs752011683
ExAC:
5:112174644 A / C
gnomAD v2:
5-112174644-A-C
gnomAD v4:
5-112838947-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838947A>C , CM000667.2:g.112838947A>C | GRCh38 |
| NC_000005.9:g.112174644A>C , CM000667.1:g.112174644A>C | GRCh37 |
| NC_000005.8:g.112202543A>C | NCBI36 |
| NG_008481.4:g.151427A>C , LRG_130:g.151427A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3018A>C | ENSP00000484935.2:n.3018A>C | |
| ENST00000504915.3:c.3407A>C | ENSP00000473355.2:p.Asn1136Thr | |
| ENST00000505350.2:c.*3359A>C | ENSP00000481752.1:n.*3359A>C | |
| ENST00000507379.6:c.3299A>C | ENSP00000423224.2:p.Asn1100Thr | |
| ENST00000509732.6:c.3353A>C | ENSP00000426541.2:p.Asn1118Thr | |
| ENST00000512211.7:c.3353A>C | ENSP00000423828.3:p.Asn1118Thr | |
| ENST00000257430.9:c.3353A>C MANE Select | ENSP00000257430.4:p.Asn1118Thr | |
| ENST00000257430.8:c.3353A>C | ENSP00000257430.4:p.Asn1118Thr | |
| ENST00000502371.2:c.1706A>C | ||
| ENST00000507379.5:c.3299A>C | ENSP00000423224.1:p.Asn1100Thr | |
| ENST00000508376.6:c.3353A>C | ENSP00000427089.2:p.Asn1118Thr | |
| ENST00000508624.5:c.*2675A>C | ENSP00000424265.1:n.*2675A>C | |
| ENST00000512211.6:c.3353A>C | ENSP00000423828.2:p.Asn1118Thr | |
| ENST00000520401.1:c.230+9975A>C | ||
| NM_000038.5:c.3353A>C | NP_000029.2:p.Asn1118Thr | |
| NM_001127510.2:c.3353A>C | NP_001120982.1:p.Asn1118Thr | |
| NM_001127511.2:c.3299A>C | NP_001120983.2:p.Asn1100Thr | |
| NM_001354895.1:c.3353A>C | NP_001341824.1:p.Asn1118Thr | |
| NM_001354896.1:c.3407A>C | NP_001341825.1:p.Asn1136Thr | |
| NM_001354897.1:c.3383A>C | NP_001341826.1:p.Asn1128Thr | |
| NM_001354898.1:c.3278A>C | NP_001341827.1:p.Asn1093Thr | |
| NM_001354899.1:c.3269A>C | NP_001341828.1:p.Asn1090Thr | |
| NM_001354900.1:c.3230A>C | NP_001341829.1:p.Asn1077Thr | |
| NM_001354901.1:c.3176A>C | NP_001341830.1:p.Asn1059Thr | |
| NM_001354902.1:c.3080A>C | NP_001341831.1:p.Asn1027Thr | |
| NM_001354903.1:c.3050A>C | NP_001341832.1:p.Asn1017Thr | |
| NM_001354904.1:c.2975A>C | NP_001341833.1:p.Asn992Thr | |
| NM_001354905.1:c.2873A>C | NP_001341834.1:p.Asn958Thr | |
| NM_001354906.1:c.2504A>C | NP_001341835.1:p.Asn835Thr | |
| NM_000038.6:c.3353A>C MANE Select | NP_000029.2:p.Asn1118Thr | |
| NM_001127510.3:c.3353A>C | NP_001120982.1:p.Asn1118Thr | |
| NM_001127511.3:c.3299A>C | NP_001120983.2:p.Asn1100Thr | |
| NM_001354895.2:c.3353A>C | NP_001341824.1:p.Asn1118Thr | |
| NM_001354896.2:c.3407A>C | NP_001341825.1:p.Asn1136Thr | |
| NM_001354897.2:c.3383A>C | NP_001341826.1:p.Asn1128Thr | |
| NM_001354898.2:c.3278A>C | NP_001341827.1:p.Asn1093Thr | |
| NM_001354899.2:c.3269A>C | NP_001341828.1:p.Asn1090Thr | |
| NM_001354900.2:c.3230A>C | NP_001341829.1:p.Asn1077Thr | |
| NM_001354901.2:c.3176A>C | NP_001341830.1:p.Asn1059Thr | |
| NM_001354902.2:c.3080A>C | NP_001341831.1:p.Asn1027Thr | |
| NM_001354903.2:c.3050A>C | NP_001341832.1:p.Asn1017Thr | |
| NM_001354904.2:c.2975A>C | NP_001341833.1:p.Asn992Thr | |
| NM_001354905.2:c.2873A>C | NP_001341834.1:p.Asn958Thr | |
| NM_001354906.2:c.2504A>C | NP_001341835.1:p.Asn835Thr |