Linked Data
ClinVar Variation Id:
411531
dbSNP Id:
rs749782426
gnomAD v2:
5-112176074-G-T
gnomAD v4:
5-112840377-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840377G>T , CM000667.2:g.112840377G>T | GRCh38 |
| NC_000005.9:g.112176074G>T , CM000667.1:g.112176074G>T | GRCh37 |
| NC_000005.8:g.112203973G>T | NCBI36 |
| NG_008481.4:g.152857G>T , LRG_130:g.152857G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4837G>T | ENSP00000473355.2:p.Ala1613Ser | |
| ENST00000505350.2:c.*4789G>T | ENSP00000481752.1:n.*4789G>T | |
| ENST00000507379.6:c.4729G>T | ENSP00000423224.2:p.Ala1577Ser | |
| ENST00000509732.6:c.4783G>T | ENSP00000426541.2:p.Ala1595Ser | |
| ENST00000512211.7:c.4783G>T | ENSP00000423828.3:p.Ala1595Ser | |
| ENST00000257430.9:c.4783G>T MANE Select | ENSP00000257430.4:p.Ala1595Ser | |
| ENST00000257430.8:c.4783G>T | ENSP00000257430.4:p.Ala1595Ser | |
| ENST00000508376.6:c.4783G>T | ENSP00000427089.2:p.Ala1595Ser | |
| ENST00000508624.5:c.*4105G>T | ENSP00000424265.1:n.*4105G>T | |
| ENST00000520401.1:c.230+11405G>T | ||
| NM_000038.5:c.4783G>T | NP_000029.2:p.Ala1595Ser | |
| NM_001127510.2:c.4783G>T | NP_001120982.1:p.Ala1595Ser | |
| NM_001127511.2:c.4729G>T | NP_001120983.2:p.Ala1577Ser | |
| NM_001354895.1:c.4783G>T | NP_001341824.1:p.Ala1595Ser | |
| NM_001354896.1:c.4837G>T | NP_001341825.1:p.Ala1613Ser | |
| NM_001354897.1:c.4813G>T | NP_001341826.1:p.Ala1605Ser | |
| NM_001354898.1:c.4708G>T | NP_001341827.1:p.Ala1570Ser | |
| NM_001354899.1:c.4699G>T | NP_001341828.1:p.Ala1567Ser | |
| NM_001354900.1:c.4660G>T | NP_001341829.1:p.Ala1554Ser | |
| NM_001354901.1:c.4606G>T | NP_001341830.1:p.Ala1536Ser | |
| NM_001354902.1:c.4510G>T | NP_001341831.1:p.Ala1504Ser | |
| NM_001354903.1:c.4480G>T | NP_001341832.1:p.Ala1494Ser | |
| NM_001354904.1:c.4405G>T | NP_001341833.1:p.Ala1469Ser | |
| NM_001354905.1:c.4303G>T | NP_001341834.1:p.Ala1435Ser | |
| NM_001354906.1:c.3934G>T | NP_001341835.1:p.Ala1312Ser | |
| NM_000038.6:c.4783G>T MANE Select | NP_000029.2:p.Ala1595Ser | |
| NM_001127510.3:c.4783G>T | NP_001120982.1:p.Ala1595Ser | |
| NM_001127511.3:c.4729G>T | NP_001120983.2:p.Ala1577Ser | |
| NM_001354895.2:c.4783G>T | NP_001341824.1:p.Ala1595Ser | |
| NM_001354896.2:c.4837G>T | NP_001341825.1:p.Ala1613Ser | |
| NM_001354897.2:c.4813G>T | NP_001341826.1:p.Ala1605Ser | |
| NM_001354898.2:c.4708G>T | NP_001341827.1:p.Ala1570Ser | |
| NM_001354899.2:c.4699G>T | NP_001341828.1:p.Ala1567Ser | |
| NM_001354900.2:c.4660G>T | NP_001341829.1:p.Ala1554Ser | |
| NM_001354901.2:c.4606G>T | NP_001341830.1:p.Ala1536Ser | |
| NM_001354902.2:c.4510G>T | NP_001341831.1:p.Ala1504Ser | |
| NM_001354903.2:c.4480G>T | NP_001341832.1:p.Ala1494Ser | |
| NM_001354904.2:c.4405G>T | NP_001341833.1:p.Ala1469Ser | |
| NM_001354905.2:c.4303G>T | NP_001341834.1:p.Ala1435Ser | |
| NM_001354906.2:c.3934G>T | NP_001341835.1:p.Ala1312Ser |