Linked Data
ClinVar Variation Id:
546098
ClinVar RCV Id:
RCV003343982
dbSNP Id:
rs772754004
gnomAD v4:
7-44149764-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44149764G>C , CM000669.2:g.44149764G>C | GRCh38 |
| NC_000007.13:g.44189363G>C , CM000669.1:g.44189363G>C | GRCh37 |
| NC_000007.12:g.44155888G>C | NCBI36 |
| NG_008847.1:g.44660C>G | |
| NG_008847.2:g.53407C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*673C>G | ENSP00000379142.4:n.*673C>G | |
| ENST00000616242.5:c.675C>G | ENSP00000482149.2:p.Ile225Met | |
| ENST00000682635.1:n.1161C>G | ||
| ENST00000345378.7:c.678C>G | ENSP00000223366.2:p.Ile226Met | |
| ENST00000403799.8:c.675C>G MANE Select | ENSP00000384247.3:p.Ile225Met | |
| ENST00000671824.1:c.675C>G | ENSP00000500264.1:p.Ile225Met | |
| ENST00000673284.1:c.675C>G | ENSP00000499852.1:p.Ile225Met | |
| ENST00000345378.6:c.678C>G | ENSP00000223366.2:p.Ile226Met | |
| ENST00000395796.7:c.672C>G | ENSP00000379142.3:p.Ile224Met | |
| ENST00000403799.7:c.675C>G | ENSP00000384247.3:p.Ile225Met | |
| ENST00000437084.1:c.624C>G | ENSP00000402840.1:p.Ile208Met | |
| ENST00000616242.4:c.672C>G | ENSP00000482149.1:p.Ile224Met | |
| NM_000162.3:c.675C>G | NP_000153.1:p.Ile225Met | |
| NM_033507.1:c.678C>G | NP_277042.1:p.Ile226Met | |
| NM_033508.1:c.672C>G | NP_277043.1:p.Ile224Met | |
| XR_927223.1:n.279G>C | ||
| NM_000162.4:c.675C>G | NP_000153.1:p.Ile225Met | |
| NM_001354800.1:c.675C>G | NP_001341729.1:p.Ile225Met | |
| NM_033507.2:c.678C>G | NP_277042.1:p.Ile226Met | |
| NM_033508.2:c.672C>G | NP_277043.1:p.Ile224Met | |
| XR_927223.2:n.279G>C | ||
| NM_000162.5:c.675C>G MANE Select | NP_000153.1:p.Ile225Met | |
| NM_033507.3:c.678C>G | NP_277042.1:p.Ile226Met | |
| NM_033508.3:c.672C>G | NP_277043.1:p.Ile224Met |