Linked Data
dbSNP Id:
rs1274678295
gnomAD v2:
6-24146139-A-G
gnomAD v3:
6-24145911-A-G
gnomAD v4:
6-24145911-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24145911A>G , CM000668.2:g.24145911A>G | GRCh38 |
| NC_000006.11:g.24146139A>G , CM000668.1:g.24146139A>G | GRCh37 |
| NC_000006.10:g.24254118A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.553A>G MANE Select | ENSP00000367752.4:p.Arg185Gly | |
| ENST00000378478.5:c.553A>G | ENSP00000367739.2:p.Arg185Gly | |
| ENST00000378491.8:c.553A>G | ENSP00000367752.4:p.Arg185Gly | |
| ENST00000468195.2:n.257-8860A>G | ||
| NM_080723.4:c.553A>G | NP_542454.3:p.Arg185Gly | |
| NM_080723.5:c.553A>G MANE Select | NP_542454.3:p.Arg185Gly |