Linked Data
ClinVar Variation Id:
1628125
ClinVar RCV Id:
RCV002123386
dbSNP Id:
rs2134247642
MyVariant Identifiers:
chr11:g.67250644C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67483173C>T , CM000673.2:g.67483173C>T | GRCh38 |
| NC_000011.9:g.67250644C>T , CM000673.1:g.67250644C>T | GRCh37 |
| NC_000011.8:g.67007220C>T | NCBI36 |
| NG_008969.1:g.5140C>T , LRG_460:g.5140C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528641.7:c.15C>T | ENSP00000434982.3:p.Ile5= | |
| ENST00000682324.1:c.15C>T | ENSP00000508017.1:p.Ile5= | |
| ENST00000682659.1:c.15C>T | ENSP00000507351.1:p.Ile5= | |
| ENST00000682699.1:c.15C>T | ENSP00000507935.1:p.Ile5= | |
| ENST00000683237.1:c.15C>T | ENSP00000507343.1:p.Ile5= | |
| ENST00000684006.1:c.15C>T | ENSP00000507269.1:p.Ile5= | |
| ENST00000684657.1:c.15C>T | ENSP00000507961.1:p.Ile5= | |
| ENST00000279146.8:c.15C>T MANE Select | ENSP00000279146.3:p.Ile5= | |
| ENST00000279146.7:c.15C>T | ENSP00000279146.3:p.Ile5= | |
| ENST00000528641.6:c.15C>T | ENSP00000434982.2:p.Ile5= | |
| ENST00000529797.1:n.125C>T | ||
| NM_001302960.1:c.15C>T | NP_001289889.1:p.Ile5= | |
| NM_003977.3:c.15C>T | NP_003968.3:p.Ile5= | |
| XM_024448761.1:c.15C>T | XP_024304529.1:p.Ile5= | |
| NM_003977.4:c.15C>T MANE Select | NP_003968.3:p.Ile5= | |
| NM_001302960.2:c.15C>T | NP_001289889.1:p.Ile5= |