Linked Data
ClinVar Variation Id:
2857414
ClinVar RCV Id:
RCV003703842
dbSNP Id:
rs1828862280
gnomAD v3:
9-72821024-T-C
gnomAD v4:
9-72821024-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72821024T>C , CM000671.2:g.72821024T>C | GRCh38 |
| NC_000009.11:g.75435940T>C , CM000671.1:g.75435940T>C | GRCh37 |
| NC_000009.10:g.74625760T>C | NCBI36 |
| NG_008213.1:g.304224T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1946T>C MANE Select | ENSP00000297784.6:p.Met649Thr | |
| ENST00000644967.1:c.*386T>C | ENSP00000496159.1:n.*386T>C | |
| ENST00000645053.1:c.1258-5845T>C | ENSP00000493838.1:n.1258-5845T>C | |
| ENST00000645208.2:c.1946T>C | ENSP00000494684.1:p.Met649Thr | |
| ENST00000645773.1:c.1820T>C | ENSP00000493698.1:p.Met607Thr | |
| ENST00000645787.1:n.2089T>C | ||
| ENST00000646619.1:c.1508T>C | ENSP00000493726.1:p.Met503Thr | |
| ENST00000651183.1:c.1508T>C | ENSP00000498723.1:p.Met503Thr | |
| ENST00000297784.9:c.1946T>C | ENSP00000297784.5:p.Met649Thr | |
| ENST00000340019.4:c.1946T>C | ENSP00000341433.3:p.Met649Thr | |
| ENST00000469455.1:n.427T>C | ||
| ENST00000486417.5:n.844T>C | ||
| NM_138691.2:c.1946T>C | NP_619636.2:p.Met649Thr | |
| XM_011518213.1:c.2534T>C | XP_011516515.1:p.Met845Thr | |
| XM_017014256.1:c.1949T>C | XP_016869745.1:p.Met650Thr | |
| NM_138691.3:c.1946T>C MANE Select | NP_619636.2:p.Met649Thr |