Linked Data
ClinVar Variation Id:
2587060
ClinVar RCV Id:
RCV003341991
MyVariant Identifiers:
chr1:g.241671963T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241508663T>G , CM000663.2:g.241508663T>G | GRCh38 |
| NC_000001.10:g.241671963T>G , CM000663.1:g.241671963T>G | GRCh37 |
| NC_000001.9:g.239738586T>G | NCBI36 |
| NG_012338.1:g.16092A>C , LRG_504:g.16092A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1181A>C | ||
| ENST00000682162.1:c.707A>C | ENSP00000508203.1:n.707A>C | |
| ENST00000682567.1:n.755A>C | ||
| ENST00000683521.1:c.678A>C | ENSP00000506864.1:p.Ala226= | |
| ENST00000684161.1:n.1893A>C | ||
| ENST00000684483.1:c.*74A>C | ENSP00000507894.1:n.*74A>C | |
| ENST00000366560.4:c.678A>C MANE Select | ENSP00000355518.4:p.Ala226= | |
| ENST00000366560.3:c.678A>C | ENSP00000355518.3:p.Ala226= | |
| NM_000143.3:c.678A>C , LRG_504t1:c.678A>C | NP_000134.2:p.Ala226= | |
| XM_011544132.1:c.450A>C | XP_011542434.1:p.Ala150= | |
| XM_011544132.2:c.450A>C | XP_011542434.1:p.Ala150= | |
| NM_000143.4:c.678A>C MANE Select | NP_000134.2:p.Ala226= |