Linked Data
dbSNP Id:
rs4648298
gnomAD v2:
1-186641682-T-C
gnomAD v3:
1-186672550-T-C
gnomAD v4:
1-186672550-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186672550T>C , CM000663.2:g.186672550T>C | GRCh38 |
| NC_000001.10:g.186641682T>C , CM000663.1:g.186641682T>C | GRCh37 |
| NC_000001.9:g.184908305T>C | NCBI36 |
| NG_028206.2:g.12878A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367468.10:c.*1803A>G MANE Select | ENSP00000356438.5:n.*1803A>G | |
| ENST00000680451.1:c.*1803A>G | ENSP00000506242.1:n.*1803A>G | |
| ENST00000681605.1:c.*3290A>G | ENSP00000504900.1:n.*3290A>G | |
| ENST00000367468.9:c.*1803A>G | ENSP00000356438.5:n.*1803A>G | |
| NM_000963.3:c.*1803A>G | NP_000954.1:n.*1803A>G | |
| NM_000963.4:c.*1803A>G MANE Select | NP_000954.1:n.*1803A>G |