Linked Data
ClinVar Variation Id:
2557359
ClinVar RCV Id:
RCV004323394
dbSNP Id:
rs749141449
ExAC:
12:131602971 A / G
gnomAD v2:
12-131602971-A-G
gnomAD v3:
12-131118426-A-G
gnomAD v4:
12-131118426-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131118426A>G , CM000674.2:g.131118426A>G | GRCh38 |
| NC_000012.11:g.131602971A>G , CM000674.1:g.131602971A>G | GRCh37 |
| NC_000012.10:g.130168924A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261654.10:c.2083A>G MANE Select | ENSP00000261654.5:p.Met695Val | |
| ENST00000261654.9:c.2083A>G | ENSP00000261654.5:p.Met695Val | |
| ENST00000335486.10:c.22-13299A>G | ENSP00000334127.7:n.22-13299A>G | |
| ENST00000376682.8:n.1396A>G | ||
| ENST00000446583.6:c.433A>G | ENSP00000482235.1:p.Met145Val | |
| ENST00000535015.5:c.2179A>G | ENSP00000444425.1:p.Met727Val | |
| ENST00000543617.2:c.640A>G | ENSP00000438021.1:p.Met214Val | |
| NM_198827.3:c.2083A>G | NP_942122.2:p.Met695Val | |
| XM_005253566.1:c.1903A>G | XP_005253623.1:p.Met635Val | |
| XM_011538203.1:c.2179A>G | XP_011536505.1:p.Met727Val | |
| XM_011538204.1:c.2179A>G | XP_011536506.1:p.Met727Val | |
| XM_011538205.1:c.1999A>G | XP_011536507.1:p.Met667Val | |
| XM_011538206.1:c.1963A>G | XP_011536508.1:p.Met655Val | |
| XM_011538207.1:c.2179A>G | XP_011536509.1:p.Met727Val | |
| XM_011538208.1:c.1744A>G | XP_011536510.1:p.Met582Val | |
| XM_011538209.1:c.1768-13299A>G | XP_011536511.1:n.1768-13299A>G | |
| XM_011538211.1:c.1171A>G | XP_011536513.1:p.Met391Val | |
| XM_011538212.1:c.949A>G | XP_011536514.1:p.Met317Val | |
| NM_001330497.1:c.2179A>G | NP_001317426.1:p.Met727Val | |
| NM_198827.4:c.2083A>G | NP_942122.2:p.Met695Val | |
| XM_005253566.2:c.1903A>G | XP_005253623.1:p.Met635Val | |
| XM_011538204.2:c.2179A>G | XP_011536506.1:p.Met727Val | |
| XM_011538205.2:c.1999A>G | XP_011536507.1:p.Met667Val | |
| XM_011538206.2:c.1963A>G | XP_011536508.1:p.Met655Val | |
| XM_011538207.2:c.2179A>G | XP_011536509.1:p.Met727Val | |
| XM_011538208.2:c.1744A>G | XP_011536510.1:p.Met582Val | |
| XM_011538209.2:c.1768-13299A>G | XP_011536511.1:n.1768-13299A>G | |
| XM_011538211.2:c.1171A>G | XP_011536513.1:p.Met391Val | |
| XM_011538212.2:c.949A>G | XP_011536514.1:p.Met317Val | |
| NM_198827.5:c.2083A>G MANE Select | NP_942122.2:p.Met695Val | |
| NM_001330497.2:c.2179A>G | NP_001317426.1:p.Met727Val |