Linked Data
ClinVar Variation Id:
550341
ClinVar RCV Id:
RCV000665063
dbSNP Id:
rs750780742
ExAC:
9:133327616 A / G
gnomAD v2:
9-133327616-A-G
gnomAD v4:
9-130452229-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130452229A>G , CM000671.2:g.130452229A>G | GRCh38 |
| NC_000009.11:g.133327616A>G , CM000671.1:g.133327616A>G | GRCh37 |
| NC_000009.10:g.132317437A>G | NCBI36 |
| NG_011542.1:g.12523A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.1A>G MANE Select | ENSP00000253004.6:p.Met1Val | |
| ENST00000352480.9:c.1A>G | ENSP00000253004.6:p.Met1Val | |
| ENST00000372393.7:c.1A>G | ENSP00000361469.2:p.Met1Val | |
| ENST00000372394.5:c.1A>G | ENSP00000361471.1:p.Met1Val | |
| ENST00000422569.5:c.1A>G | ENSP00000394212.1:p.Met1Val | |
| ENST00000443588.1:c.1A>G | ENSP00000397785.1:p.Met1Val | |
| NM_000050.4:c.1A>G | NP_000041.2:p.Met1Val | |
| NM_054012.3:c.1A>G | NP_446464.1:p.Met1Val | |
| XM_005272200.2:c.1A>G | XP_005272257.1:p.Met1Val | |
| XM_011518705.1:c.115A>G | XP_011517007.1:p.Met39Val | |
| XM_005272200.3:c.1A>G | XP_005272257.1:p.Met1Val | |
| XM_011518705.2:c.115A>G | XP_011517007.1:p.Met39Val | |
| XM_017014729.1:c.97A>G | XP_016870218.1:p.Met33Val | |
| NM_054012.4:c.1A>G MANE Select | NP_446464.1:p.Met1Val |