Linked Data
dbSNP Id:
rs1337278187
gnomAD v2:
6-87725646-A-G
gnomAD v3:
6-87015928-A-G
gnomAD v4:
6-87015928-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87015928A>G , CM000668.2:g.87015928A>G | GRCh38 |
| NC_000006.11:g.87725646A>G , CM000668.1:g.87725646A>G | GRCh37 |
| NC_000006.10:g.87782365A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305344.7:c.594A>G MANE Select | ENSP00000307766.4:p.Ile198Met | |
| ENST00000305344.6:c.594A>G | ENSP00000307766.4:p.Ile198Met | |
| NM_000865.2:c.594A>G | NP_000856.1:p.Ile198Met | |
| XM_011535789.1:c.594A>G | XP_011534091.1:p.Ile198Met | |
| XM_011535790.1:c.594A>G | XP_011534092.1:p.Ile198Met | |
| XM_011535789.2:c.594A>G | XP_011534091.1:p.Ile198Met | |
| NM_000865.3:c.594A>G MANE Select | NP_000856.1:p.Ile198Met |