Linked Data
dbSNP Id:
rs28940875
ExAC:
12:121177150 C / G
gnomAD v2:
12-121177150-C-G
gnomAD v4:
12-120739347-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739347C>G , CM000674.2:g.120739347C>G | GRCh38 |
| NC_000012.11:g.121177150C>G , CM000674.1:g.121177150C>G | GRCh37 |
| NC_000012.10:g.119661533C>G | NCBI36 |
| NG_007991.1:g.18580C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.1138C>G MANE Select | ENSP00000242592.4:p.Arg380Gly | |
| ENST00000242592.8:c.1138C>G | ENSP00000242592.4:p.Arg380Gly | |
| ENST00000411593.2:c.1126C>G | ENSP00000401045.2:p.Arg376Gly | |
| NM_000017.3:c.1138C>G | NP_000008.1:p.Arg380Gly | |
| NM_001302554.1:c.1126C>G | NP_001289483.1:p.Arg376Gly | |
| NM_000017.4:c.1138C>G MANE Select | NP_000008.1:p.Arg380Gly | |
| NM_001302554.2:c.1126C>G | NP_001289483.1:p.Arg376Gly |