Linked Data
ClinVar Variation Id:
438191
ClinVar RCV Id:
RCV000504868
dbSNP Id:
rs781003757
ExAC:
4:619416 A / G
gnomAD v2:
4-619416-A-G
gnomAD v4:
4-625627-A-G
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.625627A>G , CM000666.2:g.625627A>G | GRCh38 |
| NC_000004.11:g.619416A>G , CM000666.1:g.619416A>G | GRCh37 |
| NC_000004.10:g.609416A>G | NCBI36 |
| NG_009839.1:g.5054A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.1A>G MANE Select | ENSP00000420295.1:p.Met1Val | |
| ENST00000255622.10:c.1A>G | ENSP00000255622.6:p.Met1Val | |
| ENST00000496514.5:c.1A>G | ENSP00000420295.1:p.Met1Val | |
| NM_000283.3:c.1A>G | NP_000274.2:p.Met1Val | |
| NM_001145291.1:c.1A>G | NP_001138763.1:p.Met1Val | |
| XM_011513473.1:c.220A>G | XP_011511775.1:p.Met74Val | |
| XM_011513474.1:c.220A>G | XP_011511776.1:p.Met74Val | |
| XM_011513475.1:c.1A>G | XP_011511777.1:p.Met1Val | |
| XM_011513476.1:c.220A>G | XP_011511778.1:p.Met74Val | |
| XM_011513473.3:c.220A>G | XP_011511775.1:p.Met74Val | |
| XM_011513474.3:c.220A>G | XP_011511776.1:p.Met74Val | |
| XM_011513475.2:c.1A>G | XP_011511777.1:p.Met1Val | |
| XM_011513476.3:c.220A>G | XP_011511778.1:p.Met74Val | |
| NM_000283.4:c.1A>G MANE Select | NP_000274.3:p.Met1Val | |
| NM_001145291.2:c.1A>G | NP_001138763.2:p.Met1Val |