Linked Data
ClinVar Variation Id:
1582037
dbSNP Id:
rs2147919592
gnomAD v4:
1-241508708-T-C
MyVariant Identifiers:
chr1:g.241672008T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241508708T>C , CM000663.2:g.241508708T>C | GRCh38 |
| NC_000001.10:g.241672008T>C , CM000663.1:g.241672008T>C | GRCh37 |
| NC_000001.9:g.239738631T>C | NCBI36 |
| NG_012338.1:g.16047A>G , LRG_504:g.16047A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1136A>G | ||
| ENST00000682162.1:c.662A>G | ENSP00000508203.1:n.662A>G | |
| ENST00000682567.1:n.710A>G | ||
| ENST00000683521.1:c.633A>G | ENSP00000506864.1:p.Leu211= | |
| ENST00000684161.1:n.1848A>G | ||
| ENST00000684483.1:c.*29A>G | ENSP00000507894.1:n.*29A>G | |
| ENST00000366560.4:c.633A>G MANE Select | ENSP00000355518.4:p.Leu211= | |
| ENST00000366560.3:c.633A>G | ENSP00000355518.3:p.Leu211= | |
| NM_000143.3:c.633A>G , LRG_504t1:c.633A>G | NP_000134.2:p.Leu211= | |
| XM_011544132.1:c.405A>G | XP_011542434.1:p.Leu135= | |
| XM_011544132.2:c.405A>G | XP_011542434.1:p.Leu135= | |
| NM_000143.4:c.633A>G MANE Select | NP_000134.2:p.Leu211= |