Linked Data
ClinVar Variation Id:
135690
ClinVar RCV Id:
RCV000122764
RCV000131163
RCV000238728
RCV000348086
RCV000587302
RCV003743577
RCV002228418
RCV003492529
dbSNP Id:
rs192620988
ExAC:
5:112173884 C / T
gnomAD v2:
5-112173884-C-T
gnomAD v3:
5-112838187-C-T
gnomAD v4:
5-112838187-C-T
COSMIC:
COSM19120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838187C>T , CM000667.2:g.112838187C>T | GRCh38 |
| NC_000005.9:g.112173884C>T , CM000667.1:g.112173884C>T | GRCh37 |
| NC_000005.8:g.112201783C>T | NCBI36 |
| NG_008481.4:g.150667C>T , LRG_130:g.150667C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2258C>T | ENSP00000484935.2:n.2258C>T | |
| ENST00000504915.3:c.2647C>T | ENSP00000473355.2:p.Pro883Ser | |
| ENST00000505350.2:c.*2599C>T | ENSP00000481752.1:n.*2599C>T | |
| ENST00000507379.6:c.2539C>T | ENSP00000423224.2:p.Pro847Ser | |
| ENST00000509732.6:c.2593C>T | ENSP00000426541.2:p.Pro865Ser | |
| ENST00000512211.7:c.2593C>T | ENSP00000423828.3:p.Pro865Ser | |
| ENST00000257430.9:c.2593C>T MANE Select | ENSP00000257430.4:p.Pro865Ser | |
| ENST00000257430.8:c.2593C>T | ENSP00000257430.4:p.Pro865Ser | |
| ENST00000502371.2:c.946C>T | ||
| ENST00000507379.5:c.2539C>T | ENSP00000423224.1:p.Pro847Ser | |
| ENST00000508376.6:c.2593C>T | ENSP00000427089.2:p.Pro865Ser | |
| ENST00000508624.5:c.*1915C>T | ENSP00000424265.1:n.*1915C>T | |
| ENST00000512211.6:c.2593C>T | ENSP00000423828.2:p.Pro865Ser | |
| ENST00000520401.1:c.230+9215C>T | ||
| NM_000038.5:c.2593C>T | NP_000029.2:p.Pro865Ser | |
| NM_001127510.2:c.2593C>T | NP_001120982.1:p.Pro865Ser | |
| NM_001127511.2:c.2539C>T | NP_001120983.2:p.Pro847Ser | |
| NM_001354895.1:c.2593C>T | NP_001341824.1:p.Pro865Ser | |
| NM_001354896.1:c.2647C>T | NP_001341825.1:p.Pro883Ser | |
| NM_001354897.1:c.2623C>T | NP_001341826.1:p.Pro875Ser | |
| NM_001354898.1:c.2518C>T | NP_001341827.1:p.Pro840Ser | |
| NM_001354899.1:c.2509C>T | NP_001341828.1:p.Pro837Ser | |
| NM_001354900.1:c.2470C>T | NP_001341829.1:p.Pro824Ser | |
| NM_001354901.1:c.2416C>T | NP_001341830.1:p.Pro806Ser | |
| NM_001354902.1:c.2320C>T | NP_001341831.1:p.Pro774Ser | |
| NM_001354903.1:c.2290C>T | NP_001341832.1:p.Pro764Ser | |
| NM_001354904.1:c.2215C>T | NP_001341833.1:p.Pro739Ser | |
| NM_001354905.1:c.2113C>T | NP_001341834.1:p.Pro705Ser | |
| NM_001354906.1:c.1744C>T | NP_001341835.1:p.Pro582Ser | |
| NM_000038.6:c.2593C>T MANE Select | NP_000029.2:p.Pro865Ser | |
| NM_001127510.3:c.2593C>T | NP_001120982.1:p.Pro865Ser | |
| NM_001127511.3:c.2539C>T | NP_001120983.2:p.Pro847Ser | |
| NM_001354895.2:c.2593C>T | NP_001341824.1:p.Pro865Ser | |
| NM_001354896.2:c.2647C>T | NP_001341825.1:p.Pro883Ser | |
| NM_001354897.2:c.2623C>T | NP_001341826.1:p.Pro875Ser | |
| NM_001354898.2:c.2518C>T | NP_001341827.1:p.Pro840Ser | |
| NM_001354899.2:c.2509C>T | NP_001341828.1:p.Pro837Ser | |
| NM_001354900.2:c.2470C>T | NP_001341829.1:p.Pro824Ser | |
| NM_001354901.2:c.2416C>T | NP_001341830.1:p.Pro806Ser | |
| NM_001354902.2:c.2320C>T | NP_001341831.1:p.Pro774Ser | |
| NM_001354903.2:c.2290C>T | NP_001341832.1:p.Pro764Ser | |
| NM_001354904.2:c.2215C>T | NP_001341833.1:p.Pro739Ser | |
| NM_001354905.2:c.2113C>T | NP_001341834.1:p.Pro705Ser | |
| NM_001354906.2:c.1744C>T | NP_001341835.1:p.Pro582Ser |