Linked Data
ClinVar Variation Id:
188374
dbSNP Id:
rs2233328
ExAC:
8:134271469 T / G
gnomAD v2:
8-134271469-T-G
gnomAD v3:
8-133259226-T-G
gnomAD v4:
8-133259226-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133259226T>G , CM000670.2:g.133259226T>G | GRCh38 |
| NC_000008.10:g.134271469T>G , CM000670.1:g.134271469T>G | GRCh37 |
| NC_000008.9:g.134340651T>G | NCBI36 |
| NG_007943.1:g.43030A>C , LRG_258:g.43030A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.331A>C MANE Select | ENSP00000319977.8:p.Met111Leu | |
| ENST00000517745.2:n.303A>C | ||
| ENST00000519580.6:c.331A>C | ENSP00000429272.1:p.Met111Leu | |
| ENST00000537882.3:c.331A>C | ENSP00000437443.2:p.Met111Leu | |
| ENST00000675429.1:n.237A>C | ||
| ENST00000676005.1:c.331A>C | ENSP00000501604.1:p.Met111Leu | |
| ENST00000676022.1:n.34A>C | ||
| ENST00000676444.1:n.362A>C | ||
| ENST00000323851.11:c.331A>C | ENSP00000319977.7:p.Met111Leu | |
| ENST00000414097.6:c.331A>C | ENSP00000404854.2:p.Met111Leu | |
| ENST00000517331.5:n.49A>C | ||
| ENST00000517599.5:c.225A>C | ENSP00000429172.1:p.Thr75= | |
| ENST00000517745.1:n.161A>C | ||
| ENST00000518010.5:n.468A>C | ||
| ENST00000518066.5:c.37-17170A>C | ENSP00000431057.1:n.37-17170A>C | |
| ENST00000518094.1:n.216A>C | ||
| ENST00000518176.5:c.49-12563A>C | ENSP00000429007.1:n.49-12563A>C | |
| ENST00000518480.5:c.133A>C | ENSP00000428802.1:p.Met45Leu | |
| ENST00000519228.5:c.331A>C | ENSP00000429994.1:p.Met111Leu | |
| ENST00000519580.5:c.331A>C | ENSP00000429272.1:p.Met111Leu | |
| ENST00000520230.5:c.382A>C | ENSP00000428345.1:p.Met128Leu | |
| ENST00000520943.5:c.364A>C | ENSP00000429840.1:p.Met122Leu | |
| ENST00000521544.5:c.331A>C | ENSP00000429524.1:p.Met111Leu | |
| ENST00000522377.5:c.331A>C | ENSP00000429380.1:p.Met111Leu | |
| ENST00000522476.5:c.133A>C | ENSP00000427894.1:p.Met45Leu | |
| ENST00000522738.1:c.493A>C | ENSP00000428991.1:p.Met165Leu | |
| ENST00000522890.5:c.331A>C | ENSP00000428384.1:p.Met111Leu | |
| ENST00000537882.2:c.88A>C | ENSP00000437443.1:p.Met30Leu | |
| NM_001135242.1:c.331A>C | NP_001128714.1:p.Met111Leu | |
| NM_001258432.1:c.133A>C | NP_001245361.1:p.Met45Leu | |
| NM_001258433.1:c.88A>C | NP_001245362.1:p.Met30Leu | |
| NM_006096.3:c.331A>C , LRG_258t1:c.331A>C | NP_006087.2:p.Met111Leu | |
| XM_011516791.1:c.331A>C | XP_011515093.1:p.Met111Leu | |
| NM_001135242.2:c.331A>C | NP_001128714.1:p.Met111Leu | |
| NM_001258432.2:c.133A>C | NP_001245361.1:p.Met45Leu | |
| NM_001258433.2:c.88A>C | NP_001245362.1:p.Met30Leu | |
| NM_001374844.1:c.331A>C | NP_001361773.1:p.Met111Leu | |
| NM_001374845.1:c.331A>C | NP_001361774.1:p.Met111Leu | |
| NM_001374846.1:c.331A>C | NP_001361775.1:p.Met111Leu | |
| NM_001374847.1:c.133A>C | NP_001361776.1:p.Met45Leu | |
| NM_006096.4:c.331A>C MANE Select | NP_006087.2:p.Met111Leu |