Linked Data
dbSNP Id:
rs1469731472
gnomAD v2:
5-149357821-A-G
gnomAD v3:
5-149978258-A-G
gnomAD v4:
5-149978258-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978258A>G , CM000667.2:g.149978258A>G | GRCh38 |
| NC_000005.9:g.149357821A>G , CM000667.1:g.149357821A>G | GRCh37 |
| NC_000005.8:g.149338014A>G | NCBI36 |
| NG_007147.2:g.19376A>G , LRG_684:g.19376A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000690410.1:n.838A>G | ||
| ENST00000286298.5:c.606A>G MANE Select | ENSP00000286298.4:p.Thr202= | |
| ENST00000286298.4:c.606A>G | ENSP00000286298.4:p.Thr202= | |
| ENST00000503336.1:c.279A>G | ENSP00000426053.1:p.Thr93= | |
| NM_000112.3:c.606A>G , LRG_684t1:c.606A>G | NP_000103.2:p.Thr202= | |
| XM_017009191.2:c.606A>G | XP_016864680.1:p.Thr202= | |
| NM_000112.4:c.606A>G MANE Select | NP_000103.2:p.Thr202= |