Linked Data
ClinVar Variation Id:
2754950
ClinVar RCV Id:
RCV003564105
dbSNP Id:
rs138760475
ExAC:
4:155490879 T / C
gnomAD v2:
4-155490879-T-C
gnomAD v3:
4-154569727-T-C
gnomAD v4:
4-154569727-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569727T>C , CM000666.2:g.154569727T>C | GRCh38 |
| NC_000004.11:g.155490879T>C , CM000666.1:g.155490879T>C | GRCh37 |
| NC_000004.10:g.155710329T>C | NCBI36 |
| NG_008833.1:g.11748T>C , LRG_558:g.11748T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1172T>C MANE Select | ENSP00000306099.4:p.Met391Thr | |
| ENST00000302068.8:c.1172T>C | ENSP00000306099.4:p.Met391Thr | |
| ENST00000502545.5:n.939+420T>C | ||
| ENST00000509493.1:c.515T>C | ENSP00000426757.1:p.Met172Thr | |
| NM_001184741.1:c.995T>C | NP_001171670.1:p.Met332Thr | |
| NM_005141.4:c.1172T>C , LRG_558t1:c.1172T>C | NP_005132.2:p.Met391Thr | |
| NM_001382759.1:c.1040T>C | NP_001369688.1:p.Met347Thr | |
| NM_001382760.1:c.1172T>C | NP_001369689.1:p.Met391Thr | |
| NM_001382761.1:c.1172T>C | NP_001369690.1:p.Met391Thr | |
| NM_001382762.1:c.872T>C | NP_001369691.1:p.Met291Thr | |
| NM_001382763.1:c.1163T>C | NP_001369692.1:p.Met388Thr | |
| NM_001382764.1:c.1081-46T>C | NP_001369693.1:n.1081-46T>C | |
| NM_001382765.1:c.1172T>C | NP_001369694.1:p.Met391Thr | |
| NM_005141.5:c.1172T>C MANE Select | NP_005132.2:p.Met391Thr |