Linked Data
ClinVar Variation Id:
1693991
dbSNP Id:
rs767505621
ExAC:
8:134260986 T / C
gnomAD v2:
8-134260986-T-C
gnomAD v4:
8-133248743-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133248743T>C , CM000670.2:g.133248743T>C | GRCh38 |
| NC_000008.10:g.134260986T>C , CM000670.1:g.134260986T>C | GRCh37 |
| NC_000008.9:g.134330168T>C | NCBI36 |
| NG_007943.1:g.53513A>G , LRG_258:g.53513A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.727A>G MANE Select | ENSP00000319977.8:p.Met243Val | |
| ENST00000537882.3:c.727A>G | ENSP00000437443.2:p.Met243Val | |
| ENST00000675056.1:n.57A>G | ||
| ENST00000675068.1:c.29A>G | ||
| ENST00000675172.1:c.323A>G | ENSP00000502297.1:n.323A>G | |
| ENST00000675273.1:n.86A>G | ||
| ENST00000675860.1:n.492A>G | ||
| ENST00000676444.1:n.758A>G | ||
| ENST00000323851.11:c.727A>G | ENSP00000319977.7:p.Met243Val | |
| ENST00000414097.6:c.727A>G | ENSP00000404854.2:p.Met243Val | |
| ENST00000517331.5:n.445A>G | ||
| ENST00000517599.5:c.*333A>G | ENSP00000429172.1:n.*333A>G | |
| ENST00000518066.5:c.37-6687A>G | ENSP00000431057.1:n.37-6687A>G | |
| ENST00000518176.5:c.49-2080A>G | ENSP00000429007.1:n.49-2080A>G | |
| ENST00000519278.5:n.1823A>G | ||
| ENST00000521414.5:n.189A>G | ||
| ENST00000521664.1:n.477A>G | ||
| ENST00000522377.5:c.*207A>G | ENSP00000429380.1:n.*207A>G | |
| ENST00000522476.5:c.529A>G | ENSP00000427894.1:p.Met177Val | |
| ENST00000522665.5:n.50A>G | ||
| ENST00000537882.2:c.484A>G | ENSP00000437443.1:p.Met162Val | |
| NM_001135242.1:c.727A>G | NP_001128714.1:p.Met243Val | |
| NM_001258432.1:c.529A>G | NP_001245361.1:p.Met177Val | |
| NM_001258433.1:c.484A>G | NP_001245362.1:p.Met162Val | |
| NM_006096.3:c.727A>G , LRG_258t1:c.727A>G | NP_006087.2:p.Met243Val | |
| XM_011516791.1:c.778A>G | XP_011515093.1:p.Met260Val | |
| XM_011516792.1:c.160A>G | XP_011515094.1:p.Met54Val | |
| XM_011516792.2:c.160A>G | XP_011515094.1:p.Met54Val | |
| NM_001135242.2:c.727A>G | NP_001128714.1:p.Met243Val | |
| NM_001258432.2:c.529A>G | NP_001245361.1:p.Met177Val | |
| NM_001258433.2:c.484A>G | NP_001245362.1:p.Met162Val | |
| NM_001374844.1:c.778A>G | NP_001361773.1:p.Met260Val | |
| NM_001374845.1:c.727A>G | NP_001361774.1:p.Met243Val | |
| NM_001374846.1:c.727A>G | NP_001361775.1:p.Met243Val | |
| NM_001374847.1:c.529A>G | NP_001361776.1:p.Met177Val | |
| NM_006096.4:c.727A>G MANE Select | NP_006087.2:p.Met243Val |