Linked Data
ClinVar Variation Id:
232940
ClinVar RCV Id:
RCV000220467
RCV000236554
RCV001280597
RCV002291603
RCV002478806
RCV003650501
RCV003998013
dbSNP Id:
rs377308875
ExAC:
5:112178396 C / T
gnomAD v2:
5-112178396-C-T
gnomAD v3:
5-112842699-C-T
gnomAD v4:
5-112842699-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842699C>T , CM000667.2:g.112842699C>T | GRCh38 |
| NC_000005.9:g.112178396C>T , CM000667.1:g.112178396C>T | GRCh37 |
| NC_000005.8:g.112206295C>T | NCBI36 |
| NG_008481.4:g.155179C>T , LRG_130:g.155179C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7159C>T | ENSP00000473355.2:p.Pro2387Ser | |
| ENST00000505350.2:c.*7111C>T | ENSP00000481752.1:n.*7111C>T | |
| ENST00000507379.6:c.7051C>T | ENSP00000423224.2:p.Pro2351Ser | |
| ENST00000509732.6:c.7105C>T | ENSP00000426541.2:p.Pro2369Ser | |
| ENST00000512211.7:c.7105C>T | ENSP00000423828.3:p.Pro2369Ser | |
| ENST00000257430.9:c.7105C>T MANE Select | ENSP00000257430.4:p.Pro2369Ser | |
| ENST00000257430.8:c.7105C>T | ENSP00000257430.4:p.Pro2369Ser | |
| ENST00000508376.6:c.7105C>T | ENSP00000427089.2:p.Pro2369Ser | |
| ENST00000508624.5:c.*6427C>T | ENSP00000424265.1:n.*6427C>T | |
| ENST00000520401.1:c.230+13727C>T | ||
| NM_000038.5:c.7105C>T | NP_000029.2:p.Pro2369Ser | |
| NM_001127510.2:c.7105C>T | NP_001120982.1:p.Pro2369Ser | |
| NM_001127511.2:c.7051C>T | NP_001120983.2:p.Pro2351Ser | |
| NM_001354895.1:c.7105C>T | NP_001341824.1:p.Pro2369Ser | |
| NM_001354896.1:c.7159C>T | NP_001341825.1:p.Pro2387Ser | |
| NM_001354897.1:c.7135C>T | NP_001341826.1:p.Pro2379Ser | |
| NM_001354898.1:c.7030C>T | NP_001341827.1:p.Pro2344Ser | |
| NM_001354899.1:c.7021C>T | NP_001341828.1:p.Pro2341Ser | |
| NM_001354900.1:c.6982C>T | NP_001341829.1:p.Pro2328Ser | |
| NM_001354901.1:c.6928C>T | NP_001341830.1:p.Pro2310Ser | |
| NM_001354902.1:c.6832C>T | NP_001341831.1:p.Pro2278Ser | |
| NM_001354903.1:c.6802C>T | NP_001341832.1:p.Pro2268Ser | |
| NM_001354904.1:c.6727C>T | NP_001341833.1:p.Pro2243Ser | |
| NM_001354905.1:c.6625C>T | NP_001341834.1:p.Pro2209Ser | |
| NM_001354906.1:c.6256C>T | NP_001341835.1:p.Pro2086Ser | |
| NM_000038.6:c.7105C>T MANE Select | NP_000029.2:p.Pro2369Ser | |
| NM_001127510.3:c.7105C>T | NP_001120982.1:p.Pro2369Ser | |
| NM_001127511.3:c.7051C>T | NP_001120983.2:p.Pro2351Ser | |
| NM_001354895.2:c.7105C>T | NP_001341824.1:p.Pro2369Ser | |
| NM_001354896.2:c.7159C>T | NP_001341825.1:p.Pro2387Ser | |
| NM_001354897.2:c.7135C>T | NP_001341826.1:p.Pro2379Ser | |
| NM_001354898.2:c.7030C>T | NP_001341827.1:p.Pro2344Ser | |
| NM_001354899.2:c.7021C>T | NP_001341828.1:p.Pro2341Ser | |
| NM_001354900.2:c.6982C>T | NP_001341829.1:p.Pro2328Ser | |
| NM_001354901.2:c.6928C>T | NP_001341830.1:p.Pro2310Ser | |
| NM_001354902.2:c.6832C>T | NP_001341831.1:p.Pro2278Ser | |
| NM_001354903.2:c.6802C>T | NP_001341832.1:p.Pro2268Ser | |
| NM_001354904.2:c.6727C>T | NP_001341833.1:p.Pro2243Ser | |
| NM_001354905.2:c.6625C>T | NP_001341834.1:p.Pro2209Ser | |
| NM_001354906.2:c.6256C>T | NP_001341835.1:p.Pro2086Ser |