Linked Data
dbSNP Id:
rs201690890
ExAC:
2:29443611 T / C
gnomAD v2:
2-29443611-T-C
gnomAD v3:
2-29220745-T-C
gnomAD v4:
2-29220745-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220745T>C , CM000664.2:g.29220745T>C | GRCh38 |
| NC_000002.11:g.29443611T>C , CM000664.1:g.29443611T>C | GRCh37 |
| NC_000002.10:g.29297115T>C | NCBI36 |
| NG_009445.1:g.705822A>G , LRG_488:g.705822A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3606A>G MANE Select | ENSP00000373700.3:p.Gly1202= | |
| ENST00000431873.6:c.833A>G | ||
| ENST00000638605.1:n.483A>G | ||
| ENST00000642122.1:c.402A>G | ENSP00000493203.1:p.Gly134= | |
| ENST00000389048.7:c.3606A>G | ENSP00000373700.3:p.Gly1202= | |
| ENST00000431873.5:c.486A>G | ENSP00000414027.2:p.Gly162= | |
| ENST00000618119.4:c.2475A>G | ENSP00000482733.1:p.Gly825= | |
| NM_004304.4:c.3606A>G | NP_004295.2:p.Gly1202= | |
| NM_001353765.1:c.402A>G | NP_001340694.1:p.Gly134= | |
| XM_024452778.1:c.759A>G | XP_024308546.1:p.Gly253= | |
| XM_024452779.1:c.402A>G | XP_024308547.1:p.Gly134= | |
| NM_004304.5:c.3606A>G MANE Select | NP_004295.2:p.Gly1202= | |
| NM_001353765.2:c.402A>G | NP_001340694.1:p.Gly134= |