Linked Data
dbSNP Id:
rs1657247716
gnomAD v4:
1-197102939-A-G
MyVariant Identifiers:
chr1:g.197072069A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197102939A>G , CM000663.2:g.197102939A>G | GRCh38 |
| NC_000001.10:g.197072069A>G , CM000663.1:g.197072069A>G | GRCh37 |
| NC_000001.9:g.195338692A>G | NCBI36 |
| NG_015867.1:g.48756T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2108-6775T>C | ||
| ENST00000367409.9:c.6312T>C MANE Select | ENSP00000356379.4:p.Tyr2104= | |
| ENST00000680265.1:c.6312T>C | ENSP00000505384.1:p.Tyr2104= | |
| ENST00000680710.1:c.6312T>C | ENSP00000506676.1:p.Tyr2104= | |
| ENST00000294732.11:c.4066-6775T>C | ENSP00000294732.7:n.4066-6775T>C | |
| ENST00000367408.5:c.1816-6775T>C | ENSP00000356378.1:n.1816-6775T>C | |
| ENST00000367409.8:c.6312T>C | ENSP00000356379.4:p.Tyr2104= | |
| ENST00000612785.1:c.562-292T>C | ENSP00000479244.1:n.562-292T>C | |
| NM_001206846.1:c.4066-6775T>C | NP_001193775.1:n.4066-6775T>C | |
| NM_018136.4:c.6312T>C | NP_060606.3:p.Tyr2104= | |
| NM_018136.5:c.6312T>C MANE Select | NP_060606.3:p.Tyr2104= | |
| NM_001206846.2:c.4066-6775T>C | NP_001193775.1:n.4066-6775T>C |