Linked Data
dbSNP Id:
rs138700190
ExAC:
6:132211597 T / G
gnomAD v2:
6-132211597-T-G
gnomAD v3:
6-131890457-T-G
gnomAD v4:
6-131890457-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890457T>G , CM000668.2:g.131890457T>G | GRCh38 |
| NC_000006.11:g.132211597T>G , CM000668.1:g.132211597T>G | GRCh37 |
| NC_000006.10:g.132253290T>G | NCBI36 |
| NG_008206.1:g.87442T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1155T>G | ||
| ENST00000647893.1:c.2724T>G MANE Select | ENSP00000498074.1:p.Val908= | |
| ENST00000360971.6:c.2724T>G | ENSP00000354238.2:p.Val908= | |
| ENST00000513998.5:c.*1561T>G | ENSP00000422424.1:n.*1561T>G | |
| NM_006208.2:c.2724T>G | NP_006199.2:p.Val908= | |
| XM_011535896.1:c.1614T>G | XP_011534198.1:p.Val538= | |
| NM_006208.3:c.2724T>G MANE Select | NP_006199.2:p.Val908= |