Linked Data
dbSNP Id:
rs775112799
ExAC:
1:186925459 T / C
gnomAD v2:
1-186925459-T-C
gnomAD v3:
1-186956327-T-C
gnomAD v4:
1-186956327-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186956327T>C , CM000663.2:g.186956327T>C | GRCh38 |
| NC_000001.10:g.186925459T>C , CM000663.1:g.186925459T>C | GRCh37 |
| NC_000001.9:g.185192082T>C | NCBI36 |
| NG_012203.1:g.132428T>C | |
| NG_012203.2:g.132428T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367466.4:c.1562T>C MANE Select | ENSP00000356436.3:p.Leu521Pro | |
| ENST00000367466.3:c.1562T>C | ENSP00000356436.3:p.Leu521Pro | |
| NM_001311193.1:c.1382T>C | NP_001298122.1:p.Leu461Pro | |
| NM_024420.2:c.1562T>C | NP_077734.1:p.Leu521Pro | |
| XM_005245267.2:c.1451T>C | XP_005245324.1:p.Leu484Pro | |
| XM_011509641.1:c.1583T>C | XP_011507943.1:p.Leu528Pro | |
| XM_011509642.1:c.1562T>C | XP_011507944.1:p.Leu521Pro | |
| XM_011509643.1:c.1562T>C | XP_011507945.1:p.Leu521Pro | |
| XR_921838.1:n.1477+146T>C | ||
| XM_005245267.4:c.1577T>C | XP_005245324.2:p.Leu526Pro | |
| XM_011509642.2:c.1562T>C | XP_011507944.1:p.Leu521Pro | |
| NM_001311193.2:c.1382T>C | NP_001298122.2:p.Leu461Pro | |
| NM_024420.3:c.1562T>C MANE Select | NP_077734.2:p.Leu521Pro |