Linked Data
ClinVar Variation Id:
411419
dbSNP Id:
rs749142480
ExAC:
5:112175690 C / T
gnomAD v2:
5-112175690-C-T
gnomAD v4:
5-112839993-C-T
ERepo:
CA038968/MONDO:0021056/089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839993C>T , CM000667.2:g.112839993C>T | GRCh38 |
| NC_000005.9:g.112175690C>T , CM000667.1:g.112175690C>T | GRCh37 |
| NC_000005.8:g.112203589C>T | NCBI36 |
| NG_008481.4:g.152473C>T , LRG_130:g.152473C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4453C>T | ENSP00000473355.2:p.Pro1485Ser | |
| ENST00000505350.2:c.*4405C>T | ENSP00000481752.1:n.*4405C>T | |
| ENST00000507379.6:c.4345C>T | ENSP00000423224.2:p.Pro1449Ser | |
| ENST00000509732.6:c.4399C>T | ENSP00000426541.2:p.Pro1467Ser | |
| ENST00000512211.7:c.4399C>T | ENSP00000423828.3:p.Pro1467Ser | |
| ENST00000257430.9:c.4399C>T MANE Select | ENSP00000257430.4:p.Pro1467Ser | |
| ENST00000257430.8:c.4399C>T | ENSP00000257430.4:p.Pro1467Ser | |
| ENST00000508376.6:c.4399C>T | ENSP00000427089.2:p.Pro1467Ser | |
| ENST00000508624.5:c.*3721C>T | ENSP00000424265.1:n.*3721C>T | |
| ENST00000520401.1:c.230+11021C>T | ||
| NM_000038.5:c.4399C>T | NP_000029.2:p.Pro1467Ser | |
| NM_001127510.2:c.4399C>T | NP_001120982.1:p.Pro1467Ser | |
| NM_001127511.2:c.4345C>T | NP_001120983.2:p.Pro1449Ser | |
| NM_001354895.1:c.4399C>T | NP_001341824.1:p.Pro1467Ser | |
| NM_001354896.1:c.4453C>T | NP_001341825.1:p.Pro1485Ser | |
| NM_001354897.1:c.4429C>T | NP_001341826.1:p.Pro1477Ser | |
| NM_001354898.1:c.4324C>T | NP_001341827.1:p.Pro1442Ser | |
| NM_001354899.1:c.4315C>T | NP_001341828.1:p.Pro1439Ser | |
| NM_001354900.1:c.4276C>T | NP_001341829.1:p.Pro1426Ser | |
| NM_001354901.1:c.4222C>T | NP_001341830.1:p.Pro1408Ser | |
| NM_001354902.1:c.4126C>T | NP_001341831.1:p.Pro1376Ser | |
| NM_001354903.1:c.4096C>T | NP_001341832.1:p.Pro1366Ser | |
| NM_001354904.1:c.4021C>T | NP_001341833.1:p.Pro1341Ser | |
| NM_001354905.1:c.3919C>T | NP_001341834.1:p.Pro1307Ser | |
| NM_001354906.1:c.3550C>T | NP_001341835.1:p.Pro1184Ser | |
| NM_000038.6:c.4399C>T MANE Select | NP_000029.2:p.Pro1467Ser | |
| NM_001127510.3:c.4399C>T | NP_001120982.1:p.Pro1467Ser | |
| NM_001127511.3:c.4345C>T | NP_001120983.2:p.Pro1449Ser | |
| NM_001354895.2:c.4399C>T | NP_001341824.1:p.Pro1467Ser | |
| NM_001354896.2:c.4453C>T | NP_001341825.1:p.Pro1485Ser | |
| NM_001354897.2:c.4429C>T | NP_001341826.1:p.Pro1477Ser | |
| NM_001354898.2:c.4324C>T | NP_001341827.1:p.Pro1442Ser | |
| NM_001354899.2:c.4315C>T | NP_001341828.1:p.Pro1439Ser | |
| NM_001354900.2:c.4276C>T | NP_001341829.1:p.Pro1426Ser | |
| NM_001354901.2:c.4222C>T | NP_001341830.1:p.Pro1408Ser | |
| NM_001354902.2:c.4126C>T | NP_001341831.1:p.Pro1376Ser | |
| NM_001354903.2:c.4096C>T | NP_001341832.1:p.Pro1366Ser | |
| NM_001354904.2:c.4021C>T | NP_001341833.1:p.Pro1341Ser | |
| NM_001354905.2:c.3919C>T | NP_001341834.1:p.Pro1307Ser | |
| NM_001354906.2:c.3550C>T | NP_001341835.1:p.Pro1184Ser |