Linked Data
dbSNP Id:
rs775673195
ExAC:
2:21230271 C / G
gnomAD v2:
2-21230271-C-G
gnomAD v3:
2-21007399-C-G
gnomAD v4:
2-21007399-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21007399C>G , CM000664.2:g.21007399C>G | GRCh38 |
| NC_000002.11:g.21230271C>G , CM000664.1:g.21230271C>G | GRCh37 |
| NC_000002.10:g.21083776C>G | NCBI36 |
| NG_011793.1:g.41675G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233242.5:c.9469G>C MANE Select | ENSP00000233242.1:p.Gly3157Arg | |
| ENST00000616098.4:c.9469G>C | ENSP00000477990.1:p.Gly3157Arg | |
| NM_000384.2:c.9469G>C | NP_000375.2:p.Gly3157Arg | |
| XM_011532809.1:c.5869+3334G>C | XP_011531111.1:n.5869+3334G>C | |
| NM_000384.3:c.9469G>C MANE Select | NP_000375.3:p.Gly3157Arg |