Linked Data
ClinVar Variation Id:
2346032
ClinVar RCV Id:
RCV004184440
dbSNP Id:
rs145761179
ExAC:
17:38028731 A / G
gnomAD v2:
17-38028731-A-G
gnomAD v3:
17-39872478-A-G
gnomAD v4:
17-39872478-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39872478A>G , CM000679.2:g.39872478A>G | GRCh38 |
| NC_000017.10:g.38028731A>G , CM000679.1:g.38028731A>G | GRCh37 |
| NC_000017.9:g.35282257A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348931.9:c.615A>G MANE Select | ENSP00000335384.5:p.Ile205Met | |
| ENST00000348931.8:c.615A>G | ENSP00000335384.5:p.Ile205Met | |
| ENST00000377940.3:c.549A>G | ENSP00000367174.3:p.Ile183Met | |
| ENST00000583811.5:c.261A>G | ENSP00000462463.1:p.Ile87Met | |
| ENST00000584588.5:c.407-566A>G | ENSP00000462067.1:n.407-566A>G | |
| NM_198844.2:c.549A>G | NP_942141.2:p.Ile183Met | |
| NM_199321.2:c.615A>G | NP_955353.1:p.Ile205Met | |
| XM_011524298.1:c.615A>G | XP_011522600.1:p.Ile205Met | |
| XR_002957959.1:n.806A>G | ||
| NM_198844.3:c.549A>G | NP_942141.2:p.Ile183Met | |
| NM_199321.3:c.615A>G MANE Select | NP_955353.1:p.Ile205Met |