Linked Data
ClinVar Variation Id:
1464002
ClinVar RCV Id:
RCV001956775
dbSNP Id:
rs2104412226
gnomAD v4:
2-88575414-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575414A>G , CM000664.2:g.88575414A>G | GRCh38 |
| NC_000002.11:g.88874932A>G , CM000664.1:g.88874932A>G | GRCh37 |
| NC_000002.10:g.88656047A>G | NCBI36 |
| NG_016424.1:g.57163T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.1897T>C | ||
| ENST00000682276.1:n.1514T>C | ||
| ENST00000682892.1:c.1616T>C | ENSP00000507214.1:p.Met539Thr | |
| ENST00000682952.1:n.1708T>C | ||
| ENST00000684455.1:c.1282T>C | ||
| ENST00000684642.1:c.1466T>C | ENSP00000507355.1:p.Met489Thr | |
| ENST00000684740.1:n.2247T>C | ||
| ENST00000303236.9:c.2069T>C MANE Select | ENSP00000307235.3:p.Met690Thr | |
| ENST00000652099.1:c.2263T>C | ||
| ENST00000652736.1:n.1945T>C | ||
| ENST00000303236.7:c.2069T>C | ENSP00000307235.3:p.Met690Thr | |
| ENST00000415570.1:c.1706T>C | ENSP00000412076.1:p.Met569Thr | |
| ENST00000419748.5:c.1616T>C | ENSP00000408325.1:p.Met539Thr | |
| ENST00000478003.1:n.635T>C | ||
| NM_001313915.1:c.1616T>C | NP_001300844.1:p.Met539Thr | |
| NM_004836.5:c.2069T>C | NP_004827.4:p.Met690Thr | |
| NM_004836.6:c.2069T>C | NP_004827.4:p.Met690Thr | |
| NR_110236.1:n.1551A>G | ||
| XM_005264649.3:c.1385T>C | XP_005264706.1:p.Met462Thr | |
| XR_939749.1:n.2348T>C | ||
| XM_017005376.2:c.1385T>C | XP_016860865.1:p.Met462Thr | |
| NM_004836.7:c.2069T>C MANE Select | NP_004827.4:p.Met690Thr | |
| NM_001313915.2:c.1616T>C | NP_001300844.1:p.Met539Thr |