Linked Data
dbSNP Id:
rs773540764
ExAC:
9:133355802 C / G
gnomAD v2:
9-133355802-C-G
gnomAD v3:
9-130480415-C-G
gnomAD v4:
9-130480415-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480415C>G , CM000671.2:g.130480415C>G | GRCh38 |
| NC_000009.11:g.133355802C>G , CM000671.1:g.133355802C>G | GRCh37 |
| NC_000009.10:g.132345623C>G | NCBI36 |
| NG_011542.1:g.40709C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.804C>G MANE Select | ENSP00000253004.6:p.Ile268Met | |
| ENST00000352480.9:c.804C>G | ENSP00000253004.6:p.Ile268Met | |
| ENST00000372386.6:n.75C>G | ||
| ENST00000372393.7:c.804C>G | ENSP00000361469.2:p.Ile268Met | |
| ENST00000372394.5:c.804C>G | ENSP00000361471.1:p.Ile268Met | |
| ENST00000470849.4:n.529C>G | ||
| ENST00000492400.5:n.313C>G | ||
| ENST00000493984.6:n.581C>G | ||
| NM_000050.4:c.804C>G | NP_000041.2:p.Ile268Met | |
| NM_054012.3:c.804C>G | NP_446464.1:p.Ile268Met | |
| XM_005272200.2:c.804C>G | XP_005272257.1:p.Ile268Met | |
| XM_011518705.1:c.918C>G | XP_011517007.1:p.Ile306Met | |
| XM_005272200.3:c.804C>G | XP_005272257.1:p.Ile268Met | |
| XM_011518705.2:c.918C>G | XP_011517007.1:p.Ile306Met | |
| XM_017014729.1:c.900C>G | XP_016870218.1:p.Ile300Met | |
| NM_054012.4:c.804C>G MANE Select | NP_446464.1:p.Ile268Met |