Linked Data
ClinVar Variation Id:
375471
ClinVar RCV Id:
RCV000416560
dbSNP Id:
rs1057519506
PubMed:
PMID:26560041
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.3967633T>C , CM000673.2:g.3967633T>C | GRCh38 |
| NC_000011.9:g.3988863T>C , CM000673.1:g.3988863T>C | GRCh37 |
| NC_000011.8:g.3945439T>C | NCBI36 |
| NG_016277.1:g.116931T>C , LRG_164:g.116931T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525403.6:c.-2T>C | ENSP00000432210.2:n.-2T>C | |
| ENST00000533343.2:n.820T>C | ||
| ENST00000698909.1:n.268T>C | ||
| ENST00000698910.1:c.-219-56240T>C | ENSP00000514024.1:n.-219-56240T>C | |
| ENST00000698911.1:c.-2T>C | ENSP00000514025.1:n.-2T>C | |
| ENST00000698912.1:c.-2T>C | ENSP00000514026.1:n.-2T>C | |
| ENST00000698913.1:c.-2T>C | ENSP00000514027.1:n.-2T>C | |
| ENST00000698914.1:c.221T>C | ENSP00000514028.1:p.Leu74Pro | |
| ENST00000698915.1:c.221T>C | ENSP00000514029.1:p.Leu74Pro | |
| ENST00000698916.1:c.221T>C | ENSP00000514030.1:p.Leu74Pro | |
| ENST00000698917.1:n.460T>C | ||
| ENST00000698918.1:c.140-56240T>C | ENSP00000514031.1:n.140-56240T>C | |
| ENST00000698919.1:c.221T>C | ENSP00000514032.1:p.Leu74Pro | |
| ENST00000526596.2:c.221T>C MANE Select | ENSP00000433266.2:p.Leu74Pro | |
| ENST00000300737.8:c.221T>C | ENSP00000300737.4:p.Leu74Pro | |
| ENST00000524822.5:c.-2T>C | ENSP00000434200.1:n.-2T>C | |
| ENST00000525055.5:c.-2T>C | ENSP00000431191.1:n.-2T>C | |
| ENST00000525403.5:c.-2T>C | ENSP00000432210.1:n.-2T>C | |
| ENST00000527651.5:c.221T>C | ENSP00000436208.1:p.Leu74Pro | |
| ENST00000528656.5:c.-2T>C | ENSP00000432378.1:n.-2T>C | |
| ENST00000530554.5:c.-2T>C | ENSP00000431878.1:n.-2T>C | |
| ENST00000532610.5:c.-2T>C | ENSP00000434848.1:n.-2T>C | |
| ENST00000532919.5:c.-2T>C | ENSP00000433949.1:n.-2T>C | |
| ENST00000532990.1:c.-2T>C | ENSP00000432383.1:n.-2T>C | |
| ENST00000616714.4:c.221T>C | ENSP00000478059.1:p.Leu74Pro | |
| NM_001277961.1:c.221T>C | NP_001264890.1:p.Leu74Pro | |
| NM_001277962.1:c.221T>C | NP_001264891.1:p.Leu74Pro | |
| NM_003156.3:c.221T>C , LRG_164t1:c.221T>C | NP_003147.2:p.Leu74Pro | |
| NM_001277962.2:c.221T>C | NP_001264891.1:p.Leu74Pro | |
| NM_001277961.3:c.221T>C | NP_001264890.1:p.Leu74Pro | |
| NM_001382566.1:c.-2T>C | NP_001369495.1:n.-2T>C | |
| NM_001382567.1:c.221T>C MANE Select | NP_001369496.1:p.Leu74Pro | |
| NM_001382568.1:c.221T>C | NP_001369497.1:p.Leu74Pro | |
| NM_001382569.1:c.136-56240T>C | NP_001369498.1:n.136-56240T>C | |
| NM_001382570.1:c.221T>C | NP_001369499.1:p.Leu74Pro | |
| NM_001382571.1:c.-98-56240T>C | NP_001369500.1:n.-98-56240T>C | |
| NM_001382572.1:c.221T>C | NP_001369501.1:p.Leu74Pro | |
| NM_001382573.1:c.-2T>C | NP_001369502.1:n.-2T>C | |
| NM_001382574.1:c.-2T>C | NP_001369503.1:n.-2T>C | |
| NM_001382575.1:c.-2T>C | NP_001369504.1:n.-2T>C | |
| NM_001382576.1:c.-2T>C | NP_001369505.1:n.-2T>C | |
| NM_001382577.1:c.-2T>C | NP_001369506.1:n.-2T>C | |
| NM_001382578.1:c.-2T>C | NP_001369507.1:n.-2T>C | |
| NM_001382579.1:c.-2T>C | NP_001369508.1:n.-2T>C | |
| NM_001382580.1:c.-219-56240T>C | NP_001369509.1:n.-219-56240T>C | |
| NM_001382581.1:c.-219-56240T>C | NP_001369510.1:n.-219-56240T>C | |
| NM_003156.4:c.221T>C | NP_003147.2:p.Leu74Pro | |
| NR_168436.1:n.828T>C | ||
| NR_168437.1:n.828T>C | ||
| NR_168438.1:n.828T>C |