Linked Data
dbSNP Id:
rs776511626
ExAC:
8:55540671 T / G
gnomAD v2:
8-55540671-T-G
gnomAD v4:
8-54628111-T-G
COSMIC:
COSM1264517
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54628111T>G , CM000670.2:g.54628111T>G | GRCh38 |
| NC_000008.10:g.55540671T>G , CM000670.1:g.55540671T>G | GRCh37 |
| NC_000008.9:g.55703224T>G | NCBI36 |
| NG_009840.1:g.17045T>G | |
| NG_009840.2:g.17045T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.4229T>G MANE Select | ENSP00000220676.1:p.Leu1410Arg | |
| ENST00000636932.1:c.787+5823T>G | ENSP00000489857.1:n.787+5823T>G | |
| ENST00000637698.1:c.787+5823T>G | ENSP00000490104.1:n.787+5823T>G | |
| ENST00000220676.1:c.4229T>G | ENSP00000220676.1:p.Leu1410Arg | |
| NM_006269.1:c.4229T>G | NP_006260.1:p.Leu1410Arg | |
| XM_017013721.1:c.4250T>G | XP_016869210.1:p.Leu1417Arg | |
| XM_017013722.1:c.4229T>G | XP_016869211.1:p.Leu1410Arg | |
| NM_001375654.1:c.787+5823T>G | NP_001362583.1:n.787+5823T>G | |
| NM_006269.2:c.4229T>G MANE Select | NP_006260.1:p.Leu1410Arg |