Linked Data
dbSNP Id:
rs1363262912
gnomAD v2:
12-56348123-T-C
gnomAD v3:
12-55954339-T-C
gnomAD v4:
12-55954339-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55954339T>C , CM000674.2:g.55954339T>C | GRCh38 |
| NC_000012.11:g.56348123T>C , CM000674.1:g.56348123T>C | GRCh37 |
| NC_000012.10:g.54634390T>C | NCBI36 |
| NG_028086.1:g.17374A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000548747.6:c.1861A>G MANE Select | ENSP00000448828.1:p.Met621Val | |
| ENST00000449260.6:c.1882A>G | ENSP00000402758.2:p.Met628Val | |
| ENST00000548493.5:c.1861A>G | ENSP00000447374.1:p.Met621Val | |
| ENST00000548747.5:c.1861A>G | ENSP00000448828.1:p.Met621Val | |
| ENST00000549564.1:n.440A>G | ||
| ENST00000550447.5:c.748A>G | ENSP00000448029.1:p.Met250Val | |
| ENST00000550464.5:c.1603A>G | ENSP00000450036.1:p.Met535Val | |
| ENST00000552882.5:c.1861A>G | ENSP00000449690.1:p.Met621Val | |
| NM_001200053.1:c.1603A>G | NP_001186982.1:p.Met535Val | |
| NM_001200054.1:c.1882A>G | NP_001186983.1:p.Met628Val | |
| NM_006928.4:c.1861A>G | NP_008859.1:p.Met621Val | |
| XM_006719569.1:c.1861A>G | XP_006719632.1:p.Met621Val | |
| XM_011538685.1:c.1882A>G | XP_011536987.1:p.Met628Val | |
| XM_011538686.1:c.1756A>G | XP_011536988.1:p.Met586Val | |
| XM_011538687.1:c.1735A>G | XP_011536989.1:p.Met579Val | |
| NM_001320121.1:c.1756A>G | NP_001307050.1:p.Met586Val | |
| NM_001320122.1:c.1735A>G | NP_001307051.1:p.Met579Val | |
| NM_001384361.1:c.1861A>G MANE Select | NP_001371290.1:p.Met621Val | |
| NM_006928.5:c.1861A>G | NP_008859.1:p.Met621Val |