Linked Data
dbSNP Id:
rs1476378208
gnomAD v2:
12-21327602-T-G
gnomAD v3:
12-21174668-T-G
gnomAD v4:
12-21174668-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174668T>G , CM000674.2:g.21174668T>G | GRCh38 |
| NC_000012.11:g.21327602T>G , CM000674.1:g.21327602T>G | GRCh37 |
| NC_000012.10:g.21218869T>G | NCBI36 |
| NG_011745.1:g.48475T>G , LRG_1022:g.48475T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.318T>G MANE Select | ENSP00000256958.2:p.Ile106Met | |
| ENST00000256958.2:c.318T>G | ENSP00000256958.2:p.Ile106Met | |
| ENST00000543498.5:c.426-2108T>G | ||
| NM_006446.4:c.318T>G , LRG_1022t1:c.318T>G | NP_006437.3:p.Ile106Met | |
| NM_006446.5:c.318T>G MANE Select | NP_006437.3:p.Ile106Met |