Linked Data
ClinVar Variation Id:
1425200
ClinVar RCV Id:
RCV001924342
dbSNP Id:
rs1244421116
gnomAD v2:
11-67254631-T-C
gnomAD v4:
11-67487160-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67487160T>C , CM000673.2:g.67487160T>C | GRCh38 |
| NC_000011.9:g.67254631T>C , CM000673.1:g.67254631T>C | GRCh37 |
| NC_000011.8:g.67011207T>C | NCBI36 |
| NG_008969.1:g.9127T>C , LRG_460:g.9127T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.231T>C | ||
| ENST00000528641.7:c.254T>C | ENSP00000434982.3:p.Ile85Thr | |
| ENST00000529797.2:n.184T>C | ||
| ENST00000682324.1:c.254T>C | ENSP00000508017.1:p.Ile85Thr | |
| ENST00000682659.1:c.100-2878T>C | ENSP00000507351.1:n.100-2878T>C | |
| ENST00000682699.1:c.254T>C | ENSP00000507935.1:p.Ile85Thr | |
| ENST00000683237.1:c.254T>C | ENSP00000507343.1:p.Ile85Thr | |
| ENST00000683856.1:c.77T>C | ENSP00000507979.1:p.Ile26Thr | |
| ENST00000684006.1:c.254T>C | ENSP00000507269.1:p.Ile85Thr | |
| ENST00000684657.1:c.100-2107T>C | ENSP00000507961.1:n.100-2107T>C | |
| ENST00000279146.8:c.254T>C MANE Select | ENSP00000279146.3:p.Ile85Thr | |
| ENST00000279146.7:c.254T>C | ENSP00000279146.3:p.Ile85Thr | |
| ENST00000528641.6:c.254T>C | ENSP00000434982.2:p.Ile85Thr | |
| ENST00000529797.1:n.364T>C | ||
| NM_001302959.1:c.77T>C | NP_001289888.1:p.Ile26Thr | |
| NM_001302960.1:c.254T>C | NP_001289889.1:p.Ile85Thr | |
| NM_003977.3:c.254T>C | NP_003968.3:p.Ile85Thr | |
| XM_024448761.1:c.254T>C | XP_024304529.1:p.Ile85Thr | |
| NM_003977.4:c.254T>C MANE Select | NP_003968.3:p.Ile85Thr | |
| NM_001302960.2:c.254T>C | NP_001289889.1:p.Ile85Thr | |
| NM_001302959.2:c.77T>C | NP_001289888.1:p.Ile26Thr |