Linked Data
ClinVar Variation Id:
6616
ClinVar RCV Id:
RCV000006995
dbSNP Id:
rs121908934
ExAC:
14:31358879 T / C
gnomAD v2:
14-31358879-T-C
gnomAD v3:
14-30889673-T-C
gnomAD v4:
14-30889673-T-C
PubMed:
PMID:18312449
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30889673T>C , CM000676.2:g.30889673T>C | GRCh38 |
| NC_000014.8:g.31358879T>C , CM000676.1:g.31358879T>C | GRCh37 |
| NC_000014.7:g.30428630T>C | NCBI36 |
| NG_008211.2:g.20139T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216361.9:c.1730T>C | ENSP00000216361.5:p.Met577Thr | |
| ENST00000396618.9:c.1535T>C MANE Select | ENSP00000379862.3:p.Met512Thr | |
| ENST00000555117.2:c.1534+3361T>C | ENSP00000493569.1:n.1534+3361T>C | |
| ENST00000643575.1:c.1535T>C | ENSP00000494838.1:p.Met512Thr | |
| ENST00000643697.1:n.1837T>C | ||
| ENST00000644874.2:c.1535T>C | ENSP00000496360.1:p.Met512Thr | |
| ENST00000216361.8:c.1535T>C | ENSP00000216361.4:p.Met512Thr | |
| ENST00000396618.7:c.1535T>C | ENSP00000379862.3:p.Met512Thr | |
| ENST00000460581.6:c.1199T>C | ENSP00000451713.1:p.Met400Thr | |
| ENST00000468826.2:c.1186T>C | ||
| ENST00000475087.5:c.1477+3361T>C | ENSP00000451528.1:n.1477+3361T>C | |
| NM_001135058.1:c.1535T>C | NP_001128530.1:p.Met512Thr | |
| NM_004086.2:c.1535T>C | NP_004077.1:p.Met512Thr | |
| NR_038356.1:n.136A>G | ||
| XM_011536539.1:c.1535T>C | XP_011534841.1:p.Met512Thr | |
| NM_001347720.1:c.1730T>C | NP_001334649.1:p.Met577Thr | |
| XM_017021071.1:c.1730T>C | XP_016876560.1:p.Met577Thr | |
| XM_024449506.1:c.1592T>C | XP_024305274.1:p.Met531Thr | |
| NM_004086.3:c.1535T>C MANE Select | NP_004077.1:p.Met512Thr | |
| NM_001135058.2:c.1535T>C | NP_001128530.1:p.Met512Thr | |
| NM_001347720.2:c.1730T>C | NP_001334649.1:p.Met577Thr |