Linked Data
ClinVar Variation Id:
41189
dbSNP Id:
rs267606561
ExAC:
11:67257624 T / C
gnomAD v2:
11-67257624-T-C
gnomAD v3:
11-67490153-T-C
gnomAD v4:
11-67490153-T-C
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490153T>C , CM000673.2:g.67490153T>C | GRCh38 |
| NC_000011.9:g.67257624T>C , CM000673.1:g.67257624T>C | GRCh37 |
| NC_000011.8:g.67014200T>C | NCBI36 |
| NG_008969.1:g.12120T>C , LRG_460:g.12120T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.561T>C | ||
| ENST00000528641.7:c.395T>C | ENSP00000434982.3:p.Val132Ala | |
| ENST00000529797.2:n.1096T>C | ||
| ENST00000682324.1:c.468+698T>C | ENSP00000508017.1:n.468+698T>C | |
| ENST00000682659.1:c.215T>C | ENSP00000507351.1:p.Val72Ala | |
| ENST00000682699.1:c.584T>C | ENSP00000507935.1:p.Val195Ala | |
| ENST00000683237.1:c.584T>C | ENSP00000507343.1:p.Val195Ala | |
| ENST00000683856.1:c.407T>C | ENSP00000507979.1:p.Val136Ala | |
| ENST00000684006.1:c.584T>C | ENSP00000507269.1:p.Val195Ala | |
| ENST00000684657.1:c.404T>C | ENSP00000507961.1:p.Val135Ala | |
| ENST00000279146.8:c.584T>C MANE Select | ENSP00000279146.3:p.Val195Ala | |
| ENST00000279146.7:c.584T>C | ENSP00000279146.3:p.Val195Ala | |
| ENST00000525341.1:c.236T>C | ENSP00000476993.1:p.Val79Ala | |
| ENST00000528641.6:c.395T>C | ENSP00000434982.2:p.Val132Ala | |
| NM_001302959.1:c.407T>C | NP_001289888.1:p.Val136Ala | |
| NM_001302960.1:c.584T>C | NP_001289889.1:p.Val195Ala | |
| NM_003977.3:c.584T>C | NP_003968.3:p.Val195Ala | |
| XM_024448761.1:c.584T>C | XP_024304529.1:p.Val195Ala | |
| NM_003977.4:c.584T>C MANE Select | NP_003968.3:p.Val195Ala | |
| NM_001302960.2:c.584T>C | NP_001289889.1:p.Val195Ala | |
| NM_001302959.2:c.407T>C | NP_001289888.1:p.Val136Ala |