Linked Data
ClinVar Variation Id:
775581
ClinVar RCV Id:
RCV000955754
dbSNP Id:
rs79376478
ExAC:
19:47280263 T / G
gnomAD v2:
19-47280263-T-G
gnomAD v3:
19-46777006-T-G
gnomAD v4:
19-46777006-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46777006T>G , CM000681.2:g.46777006T>G | GRCh38 |
| NC_000019.9:g.47280263T>G , CM000681.1:g.47280263T>G | GRCh37 |
| NC_000019.8:g.51972103T>G | NCBI36 |
| NG_008898.2:g.35961T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412532.6:c.673A>C | ENSP00000397924.1:p.Ile225Leu | |
| ENST00000434726.6:c.751A>C | ENSP00000406532.1:p.Ile251Leu | |
| ENST00000542575.6:c.1357A>C MANE Select | ENSP00000444408.1:p.Ile453Leu | |
| ENST00000594991.5:c.829A>C | ENSP00000469265.1:p.Ile277Leu | |
| NM_001145144.1:c.673A>C | NP_001138616.1:p.Ile225Leu | |
| NM_001145145.1:c.751A>C | NP_001138617.1:p.Ile251Leu | |
| NM_005628.2:c.1357A>C | NP_005619.1:p.Ile453Leu | |
| XM_005259167.3:c.1357A>C | XP_005259224.1:p.Ile453Leu | |
| XM_005259167.4:c.1357A>C | XP_005259224.1:p.Ile453Leu | |
| NM_005628.3:c.1357A>C MANE Select | NP_005619.1:p.Ile453Leu | |
| NM_001145144.2:c.673A>C | NP_001138616.1:p.Ile225Leu | |
| NM_001145145.2:c.751A>C | NP_001138617.1:p.Ile251Leu |