Linked Data
dbSNP Id:
rs1404607956
gnomAD v2:
12-49433289-A-G
gnomAD v3:
12-49039506-A-G
gnomAD v4:
12-49039506-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49039506A>G , CM000674.2:g.49039506A>G | GRCh38 |
| NC_000012.11:g.49433289A>G , CM000674.1:g.49433289A>G | GRCh37 |
| NC_000012.10:g.47719556A>G | NCBI36 |
| NG_027827.1:g.20819T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.8158T>C | ENSP00000506726.1:p.Trp2720Arg | |
| ENST00000685166.1:c.8167T>C | ENSP00000509386.1:p.Trp2723Arg | |
| ENST00000689060.1:c.2177T>C | ||
| ENST00000689143.1:c.1831T>C | ENSP00000509839.1:p.Trp611Arg | |
| ENST00000689944.1:c.2267T>C | ||
| ENST00000692637.1:c.8155T>C | ENSP00000509666.1:p.Trp2719Arg | |
| ENST00000301067.12:c.8158T>C MANE Select | ENSP00000301067.7:p.Trp2720Arg | |
| ENST00000301067.11:c.8158T>C | ENSP00000301067.7:p.Trp2720Arg | |
| NM_003482.3:c.8158T>C | NP_003473.3:p.Trp2720Arg | |
| XM_005269162.3:c.8158T>C | XP_005269219.1:p.Trp2720Arg | |
| XM_006719614.2:c.8167T>C | XP_006719677.1:p.Trp2723Arg | |
| XM_006719616.2:c.8155T>C | XP_006719679.1:p.Trp2719Arg | |
| XM_011538770.1:c.8167T>C | XP_011537072.1:p.Trp2723Arg | |
| XM_011538771.1:c.8164T>C | XP_011537073.1:p.Trp2722Arg | |
| XM_011538772.1:c.8158T>C | XP_011537074.1:p.Trp2720Arg | |
| XM_011538773.1:c.8155T>C | XP_011537075.1:p.Trp2719Arg | |
| XM_011538774.1:c.8146T>C | XP_011537076.1:p.Trp2716Arg | |
| XM_011538775.1:c.8167T>C | XP_011537077.1:p.Trp2723Arg | |
| XM_011538776.1:c.8074T>C | XP_011537078.1:p.Trp2692Arg | |
| XR_944740.1:n.10487T>C | ||
| XM_005269162.4:c.8158T>C | XP_005269219.1:p.Trp2720Arg | |
| XM_006719614.4:c.8167T>C | XP_006719677.1:p.Trp2723Arg | |
| XM_006719616.3:c.8155T>C | XP_006719679.1:p.Trp2719Arg | |
| XM_011538770.2:c.8167T>C | XP_011537072.1:p.Trp2723Arg | |
| XM_011538771.2:c.8164T>C | XP_011537073.1:p.Trp2722Arg | |
| XM_011538772.2:c.8158T>C | XP_011537074.1:p.Trp2720Arg | |
| XM_011538773.2:c.8155T>C | XP_011537075.1:p.Trp2719Arg | |
| XM_011538774.2:c.8146T>C | XP_011537076.1:p.Trp2716Arg | |
| XM_011538776.2:c.8074T>C | XP_011537078.1:p.Trp2692Arg | |
| XR_001748874.1:n.9476T>C | ||
| NM_003482.4:c.8158T>C MANE Select | NP_003473.3:p.Trp2720Arg |