Linked Data
ClinVar Variation Id:
482458
dbSNP Id:
rs746965994
ExAC:
5:112173763 A / T
gnomAD v2:
5-112173763-A-T
gnomAD v4:
5-112838066-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838066A>T , CM000667.2:g.112838066A>T | GRCh38 |
| NC_000005.9:g.112173763A>T , CM000667.1:g.112173763A>T | GRCh37 |
| NC_000005.8:g.112201662A>T | NCBI36 |
| NG_008481.4:g.150546A>T , LRG_130:g.150546A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.2137A>T | ENSP00000484935.2:n.2137A>T | |
| ENST00000504915.3:c.2526A>T | ENSP00000473355.2:p.Pro842= | |
| ENST00000505350.2:c.*2478A>T | ENSP00000481752.1:n.*2478A>T | |
| ENST00000507379.6:c.2418A>T | ENSP00000423224.2:p.Pro806= | |
| ENST00000509732.6:c.2472A>T | ENSP00000426541.2:p.Pro824= | |
| ENST00000512211.7:c.2472A>T | ENSP00000423828.3:p.Pro824= | |
| ENST00000257430.9:c.2472A>T MANE Select | ENSP00000257430.4:p.Pro824= | |
| ENST00000257430.8:c.2472A>T | ENSP00000257430.4:p.Pro824= | |
| ENST00000502371.2:c.825A>T | ||
| ENST00000507379.5:c.2418A>T | ENSP00000423224.1:p.Pro806= | |
| ENST00000508376.6:c.2472A>T | ENSP00000427089.2:p.Pro824= | |
| ENST00000508624.5:c.*1794A>T | ENSP00000424265.1:n.*1794A>T | |
| ENST00000512211.6:c.2472A>T | ENSP00000423828.2:p.Pro824= | |
| ENST00000520401.1:c.230+9094A>T | ||
| NM_000038.5:c.2472A>T | NP_000029.2:p.Pro824= | |
| NM_001127510.2:c.2472A>T | NP_001120982.1:p.Pro824= | |
| NM_001127511.2:c.2418A>T | NP_001120983.2:p.Pro806= | |
| NM_001354895.1:c.2472A>T | NP_001341824.1:p.Pro824= | |
| NM_001354896.1:c.2526A>T | NP_001341825.1:p.Pro842= | |
| NM_001354897.1:c.2502A>T | NP_001341826.1:p.Pro834= | |
| NM_001354898.1:c.2397A>T | NP_001341827.1:p.Pro799= | |
| NM_001354899.1:c.2388A>T | NP_001341828.1:p.Pro796= | |
| NM_001354900.1:c.2349A>T | NP_001341829.1:p.Pro783= | |
| NM_001354901.1:c.2295A>T | NP_001341830.1:p.Pro765= | |
| NM_001354902.1:c.2199A>T | NP_001341831.1:p.Pro733= | |
| NM_001354903.1:c.2169A>T | NP_001341832.1:p.Pro723= | |
| NM_001354904.1:c.2094A>T | NP_001341833.1:p.Pro698= | |
| NM_001354905.1:c.1992A>T | NP_001341834.1:p.Pro664= | |
| NM_001354906.1:c.1623A>T | NP_001341835.1:p.Pro541= | |
| NM_000038.6:c.2472A>T MANE Select | NP_000029.2:p.Pro824= | |
| NM_001127510.3:c.2472A>T | NP_001120982.1:p.Pro824= | |
| NM_001127511.3:c.2418A>T | NP_001120983.2:p.Pro806= | |
| NM_001354895.2:c.2472A>T | NP_001341824.1:p.Pro824= | |
| NM_001354896.2:c.2526A>T | NP_001341825.1:p.Pro842= | |
| NM_001354897.2:c.2502A>T | NP_001341826.1:p.Pro834= | |
| NM_001354898.2:c.2397A>T | NP_001341827.1:p.Pro799= | |
| NM_001354899.2:c.2388A>T | NP_001341828.1:p.Pro796= | |
| NM_001354900.2:c.2349A>T | NP_001341829.1:p.Pro783= | |
| NM_001354901.2:c.2295A>T | NP_001341830.1:p.Pro765= | |
| NM_001354902.2:c.2199A>T | NP_001341831.1:p.Pro733= | |
| NM_001354903.2:c.2169A>T | NP_001341832.1:p.Pro723= | |
| NM_001354904.2:c.2094A>T | NP_001341833.1:p.Pro698= | |
| NM_001354905.2:c.1992A>T | NP_001341834.1:p.Pro664= | |
| NM_001354906.2:c.1623A>T | NP_001341835.1:p.Pro541= |