Linked Data
ClinVar Variation Id:
411353
ClinVar RCV Id:
RCV003766557
dbSNP Id:
rs1060503267
gnomAD v4:
5-112842489-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842489C>T , CM000667.2:g.112842489C>T | GRCh38 |
| NC_000005.9:g.112178186C>T , CM000667.1:g.112178186C>T | GRCh37 |
| NC_000005.8:g.112206085C>T | NCBI36 |
| NG_008481.4:g.154969C>T , LRG_130:g.154969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6949C>T | ENSP00000473355.2:p.Pro2317Ser | |
| ENST00000505350.2:c.*6901C>T | ENSP00000481752.1:n.*6901C>T | |
| ENST00000507379.6:c.6841C>T | ENSP00000423224.2:p.Pro2281Ser | |
| ENST00000509732.6:c.6895C>T | ENSP00000426541.2:p.Pro2299Ser | |
| ENST00000512211.7:c.6895C>T | ENSP00000423828.3:p.Pro2299Ser | |
| ENST00000257430.9:c.6895C>T MANE Select | ENSP00000257430.4:p.Pro2299Ser | |
| ENST00000257430.8:c.6895C>T | ENSP00000257430.4:p.Pro2299Ser | |
| ENST00000508376.6:c.6895C>T | ENSP00000427089.2:p.Pro2299Ser | |
| ENST00000508624.5:c.*6217C>T | ENSP00000424265.1:n.*6217C>T | |
| ENST00000520401.1:c.230+13517C>T | ||
| NM_000038.5:c.6895C>T | NP_000029.2:p.Pro2299Ser | |
| NM_001127510.2:c.6895C>T | NP_001120982.1:p.Pro2299Ser | |
| NM_001127511.2:c.6841C>T | NP_001120983.2:p.Pro2281Ser | |
| NM_001354895.1:c.6895C>T | NP_001341824.1:p.Pro2299Ser | |
| NM_001354896.1:c.6949C>T | NP_001341825.1:p.Pro2317Ser | |
| NM_001354897.1:c.6925C>T | NP_001341826.1:p.Pro2309Ser | |
| NM_001354898.1:c.6820C>T | NP_001341827.1:p.Pro2274Ser | |
| NM_001354899.1:c.6811C>T | NP_001341828.1:p.Pro2271Ser | |
| NM_001354900.1:c.6772C>T | NP_001341829.1:p.Pro2258Ser | |
| NM_001354901.1:c.6718C>T | NP_001341830.1:p.Pro2240Ser | |
| NM_001354902.1:c.6622C>T | NP_001341831.1:p.Pro2208Ser | |
| NM_001354903.1:c.6592C>T | NP_001341832.1:p.Pro2198Ser | |
| NM_001354904.1:c.6517C>T | NP_001341833.1:p.Pro2173Ser | |
| NM_001354905.1:c.6415C>T | NP_001341834.1:p.Pro2139Ser | |
| NM_001354906.1:c.6046C>T | NP_001341835.1:p.Pro2016Ser | |
| NM_000038.6:c.6895C>T MANE Select | NP_000029.2:p.Pro2299Ser | |
| NM_001127510.3:c.6895C>T | NP_001120982.1:p.Pro2299Ser | |
| NM_001127511.3:c.6841C>T | NP_001120983.2:p.Pro2281Ser | |
| NM_001354895.2:c.6895C>T | NP_001341824.1:p.Pro2299Ser | |
| NM_001354896.2:c.6949C>T | NP_001341825.1:p.Pro2317Ser | |
| NM_001354897.2:c.6925C>T | NP_001341826.1:p.Pro2309Ser | |
| NM_001354898.2:c.6820C>T | NP_001341827.1:p.Pro2274Ser | |
| NM_001354899.2:c.6811C>T | NP_001341828.1:p.Pro2271Ser | |
| NM_001354900.2:c.6772C>T | NP_001341829.1:p.Pro2258Ser | |
| NM_001354901.2:c.6718C>T | NP_001341830.1:p.Pro2240Ser | |
| NM_001354902.2:c.6622C>T | NP_001341831.1:p.Pro2208Ser | |
| NM_001354903.2:c.6592C>T | NP_001341832.1:p.Pro2198Ser | |
| NM_001354904.2:c.6517C>T | NP_001341833.1:p.Pro2173Ser | |
| NM_001354905.2:c.6415C>T | NP_001341834.1:p.Pro2139Ser | |
| NM_001354906.2:c.6046C>T | NP_001341835.1:p.Pro2016Ser |