Linked Data
ClinVar Variation Id:
216164
dbSNP Id:
rs779898882
ExAC:
5:112175686 T / A
gnomAD v2:
5-112175686-T-A
gnomAD v3:
5-112839989-T-A
gnomAD v4:
5-112839989-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839989T>A , CM000667.2:g.112839989T>A | GRCh38 |
| NC_000005.9:g.112175686T>A , CM000667.1:g.112175686T>A | GRCh37 |
| NC_000005.8:g.112203585T>A | NCBI36 |
| NG_008481.4:g.152469T>A , LRG_130:g.152469T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4449T>A | ENSP00000473355.2:p.Ser1483Arg | |
| ENST00000505350.2:c.*4401T>A | ENSP00000481752.1:n.*4401T>A | |
| ENST00000507379.6:c.4341T>A | ENSP00000423224.2:p.Ser1447Arg | |
| ENST00000509732.6:c.4395T>A | ENSP00000426541.2:p.Ser1465Arg | |
| ENST00000512211.7:c.4395T>A | ENSP00000423828.3:p.Ser1465Arg | |
| ENST00000257430.9:c.4395T>A MANE Select | ENSP00000257430.4:p.Ser1465Arg | |
| ENST00000257430.8:c.4395T>A | ENSP00000257430.4:p.Ser1465Arg | |
| ENST00000508376.6:c.4395T>A | ENSP00000427089.2:p.Ser1465Arg | |
| ENST00000508624.5:c.*3717T>A | ENSP00000424265.1:n.*3717T>A | |
| ENST00000520401.1:c.230+11017T>A | ||
| NM_000038.5:c.4395T>A | NP_000029.2:p.Ser1465Arg | |
| NM_001127510.2:c.4395T>A | NP_001120982.1:p.Ser1465Arg | |
| NM_001127511.2:c.4341T>A | NP_001120983.2:p.Ser1447Arg | |
| NM_001354895.1:c.4395T>A | NP_001341824.1:p.Ser1465Arg | |
| NM_001354896.1:c.4449T>A | NP_001341825.1:p.Ser1483Arg | |
| NM_001354897.1:c.4425T>A | NP_001341826.1:p.Ser1475Arg | |
| NM_001354898.1:c.4320T>A | NP_001341827.1:p.Ser1440Arg | |
| NM_001354899.1:c.4311T>A | NP_001341828.1:p.Ser1437Arg | |
| NM_001354900.1:c.4272T>A | NP_001341829.1:p.Ser1424Arg | |
| NM_001354901.1:c.4218T>A | NP_001341830.1:p.Ser1406Arg | |
| NM_001354902.1:c.4122T>A | NP_001341831.1:p.Ser1374Arg | |
| NM_001354903.1:c.4092T>A | NP_001341832.1:p.Ser1364Arg | |
| NM_001354904.1:c.4017T>A | NP_001341833.1:p.Ser1339Arg | |
| NM_001354905.1:c.3915T>A | NP_001341834.1:p.Ser1305Arg | |
| NM_001354906.1:c.3546T>A | NP_001341835.1:p.Ser1182Arg | |
| NM_000038.6:c.4395T>A MANE Select | NP_000029.2:p.Ser1465Arg | |
| NM_001127510.3:c.4395T>A | NP_001120982.1:p.Ser1465Arg | |
| NM_001127511.3:c.4341T>A | NP_001120983.2:p.Ser1447Arg | |
| NM_001354895.2:c.4395T>A | NP_001341824.1:p.Ser1465Arg | |
| NM_001354896.2:c.4449T>A | NP_001341825.1:p.Ser1483Arg | |
| NM_001354897.2:c.4425T>A | NP_001341826.1:p.Ser1475Arg | |
| NM_001354898.2:c.4320T>A | NP_001341827.1:p.Ser1440Arg | |
| NM_001354899.2:c.4311T>A | NP_001341828.1:p.Ser1437Arg | |
| NM_001354900.2:c.4272T>A | NP_001341829.1:p.Ser1424Arg | |
| NM_001354901.2:c.4218T>A | NP_001341830.1:p.Ser1406Arg | |
| NM_001354902.2:c.4122T>A | NP_001341831.1:p.Ser1374Arg | |
| NM_001354903.2:c.4092T>A | NP_001341832.1:p.Ser1364Arg | |
| NM_001354904.2:c.4017T>A | NP_001341833.1:p.Ser1339Arg | |
| NM_001354905.2:c.3915T>A | NP_001341834.1:p.Ser1305Arg | |
| NM_001354906.2:c.3546T>A | NP_001341835.1:p.Ser1182Arg |