Linked Data
ClinVar Variation Id:
41216
ClinVar RCV Id:
RCV002371818
dbSNP Id:
rs267606586
ExAC:
11:67258436 C / T
gnomAD v2:
11-67258436-C-T
gnomAD v3:
11-67490965-C-T
gnomAD v4:
11-67490965-C-T
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490965C>T , CM000673.2:g.67490965C>T | GRCh38 |
| NC_000011.9:g.67258436C>T , CM000673.1:g.67258436C>T | GRCh37 |
| NC_000011.8:g.67015012C>T | NCBI36 |
| NG_008969.1:g.12932C>T , LRG_460:g.12932C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.1272C>T | ||
| ENST00000528641.7:c.776C>T | ENSP00000434982.3:p.Ala259Val | |
| ENST00000529797.2:n.1807C>T | ||
| ENST00000682324.1:c.469-32C>T | ENSP00000508017.1:n.469-32C>T | |
| ENST00000682659.1:c.596C>T | ENSP00000507351.1:p.Ala199Val | |
| ENST00000683237.1:c.*105C>T | ENSP00000507343.1:n.*105C>T | |
| ENST00000683856.1:c.788C>T | ENSP00000507979.1:p.Ala263Val | |
| ENST00000684006.1:c.*105C>T | ENSP00000507269.1:n.*105C>T | |
| ENST00000684657.1:c.785C>T | ENSP00000507961.1:p.Ala262Val | |
| ENST00000279146.8:c.965C>T MANE Select | ENSP00000279146.3:p.Ala322Val | |
| ENST00000279146.7:c.965C>T | ENSP00000279146.3:p.Ala322Val | |
| NM_001302959.1:c.788C>T | NP_001289888.1:p.Ala263Val | |
| NM_001302960.1:c.*105C>T | NP_001289889.1:n.*105C>T | |
| NM_003977.3:c.965C>T | NP_003968.3:p.Ala322Val | |
| XM_024448761.1:c.965C>T | XP_024304529.1:p.Ala322Val | |
| NM_003977.4:c.965C>T MANE Select | NP_003968.3:p.Ala322Val | |
| NM_001302960.2:c.*105C>T | NP_001289889.1:n.*105C>T | |
| NM_001302959.2:c.788C>T | NP_001289888.1:p.Ala263Val |