Linked Data
ClinVar Variation Id:
184474
ClinVar RCV Id:
RCV000163734
RCV000234737
RCV000779738
RCV001310857
RCV003398835
RCV003316005
RCV003743609
RCV003995277
dbSNP Id:
rs375586273
ExAC:
5:112178693 T / C
gnomAD v2:
5-112178693-T-C
gnomAD v3:
5-112842996-T-C
gnomAD v4:
5-112842996-T-C
PubMed:
PMID:25186627
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842996T>C , CM000667.2:g.112842996T>C | GRCh38 |
| NC_000005.9:g.112178693T>C , CM000667.1:g.112178693T>C | GRCh37 |
| NC_000005.8:g.112206592T>C | NCBI36 |
| NG_008481.4:g.155476T>C , LRG_130:g.155476T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7456T>C | ENSP00000473355.2:p.Ser2486Pro | |
| ENST00000505350.2:c.*7408T>C | ENSP00000481752.1:n.*7408T>C | |
| ENST00000507379.6:c.7348T>C | ENSP00000423224.2:p.Ser2450Pro | |
| ENST00000509732.6:c.7402T>C | ENSP00000426541.2:p.Ser2468Pro | |
| ENST00000512211.7:c.7402T>C | ENSP00000423828.3:p.Ser2468Pro | |
| ENST00000257430.9:c.7402T>C MANE Select | ENSP00000257430.4:p.Ser2468Pro | |
| ENST00000257430.8:c.7402T>C | ENSP00000257430.4:p.Ser2468Pro | |
| ENST00000508376.6:c.7402T>C | ENSP00000427089.2:p.Ser2468Pro | |
| ENST00000520401.1:c.231-13653T>C | ||
| NM_000038.5:c.7402T>C | NP_000029.2:p.Ser2468Pro | |
| NM_001127510.2:c.7402T>C | NP_001120982.1:p.Ser2468Pro | |
| NM_001127511.2:c.7348T>C | NP_001120983.2:p.Ser2450Pro | |
| NM_001354895.1:c.7402T>C | NP_001341824.1:p.Ser2468Pro | |
| NM_001354896.1:c.7456T>C | NP_001341825.1:p.Ser2486Pro | |
| NM_001354897.1:c.7432T>C | NP_001341826.1:p.Ser2478Pro | |
| NM_001354898.1:c.7327T>C | NP_001341827.1:p.Ser2443Pro | |
| NM_001354899.1:c.7318T>C | NP_001341828.1:p.Ser2440Pro | |
| NM_001354900.1:c.7279T>C | NP_001341829.1:p.Ser2427Pro | |
| NM_001354901.1:c.7225T>C | NP_001341830.1:p.Ser2409Pro | |
| NM_001354902.1:c.7129T>C | NP_001341831.1:p.Ser2377Pro | |
| NM_001354903.1:c.7099T>C | NP_001341832.1:p.Ser2367Pro | |
| NM_001354904.1:c.7024T>C | NP_001341833.1:p.Ser2342Pro | |
| NM_001354905.1:c.6922T>C | NP_001341834.1:p.Ser2308Pro | |
| NM_001354906.1:c.6553T>C | NP_001341835.1:p.Ser2185Pro | |
| NM_000038.6:c.7402T>C MANE Select | NP_000029.2:p.Ser2468Pro | |
| NM_001127510.3:c.7402T>C | NP_001120982.1:p.Ser2468Pro | |
| NM_001127511.3:c.7348T>C | NP_001120983.2:p.Ser2450Pro | |
| NM_001354895.2:c.7402T>C | NP_001341824.1:p.Ser2468Pro | |
| NM_001354896.2:c.7456T>C | NP_001341825.1:p.Ser2486Pro | |
| NM_001354897.2:c.7432T>C | NP_001341826.1:p.Ser2478Pro | |
| NM_001354898.2:c.7327T>C | NP_001341827.1:p.Ser2443Pro | |
| NM_001354899.2:c.7318T>C | NP_001341828.1:p.Ser2440Pro | |
| NM_001354900.2:c.7279T>C | NP_001341829.1:p.Ser2427Pro | |
| NM_001354901.2:c.7225T>C | NP_001341830.1:p.Ser2409Pro | |
| NM_001354902.2:c.7129T>C | NP_001341831.1:p.Ser2377Pro | |
| NM_001354903.2:c.7099T>C | NP_001341832.1:p.Ser2367Pro | |
| NM_001354904.2:c.7024T>C | NP_001341833.1:p.Ser2342Pro | |
| NM_001354905.2:c.6922T>C | NP_001341834.1:p.Ser2308Pro | |
| NM_001354906.2:c.6553T>C | NP_001341835.1:p.Ser2185Pro |