Linked Data
ClinVar Variation Id:
222747
dbSNP Id:
rs869025490
gnomAD v2:
10-69881230-T-C
gnomAD v3:
10-68121473-T-C
gnomAD v4:
10-68121473-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68121473T>C , CM000672.2:g.68121473T>C | GRCh38 |
| NC_000010.10:g.69881230T>C , CM000672.1:g.69881230T>C | GRCh37 |
| NC_000010.9:g.69551236T>C | NCBI36 |
| NG_032118.1:g.20357T>C , LRG_410:g.20357T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.77+14672T>C | ENSP00000346369.2:n.77+14672T>C | |
| ENST00000373675.4:c.35T>C | ENSP00000362779.4:p.Ile12Thr | |
| ENST00000540630.6:c.35T>C | ENSP00000441668.3:p.Ile12Thr | |
| ENST00000613327.5:c.35T>C | ENSP00000480757.2:p.Ile12Thr | |
| ENST00000685006.1:c.107T>C | ENSP00000510318.1:p.Ile36Thr | |
| ENST00000685060.1:n.272T>C | ||
| ENST00000685154.1:c.35T>C | ENSP00000509251.1:p.Ile12Thr | |
| ENST00000685627.1:c.*46T>C | ENSP00000508637.1:n.*46T>C | |
| ENST00000686289.1:n.113+15290T>C | ||
| ENST00000687572.1:c.-221+15290T>C | ENSP00000510427.1:n.-221+15290T>C | |
| ENST00000687705.1:c.*284T>C | ENSP00000509639.1:n.*284T>C | |
| ENST00000688812.1:c.35T>C | ENSP00000510658.1:p.Ile12Thr | |
| ENST00000689218.1:n.264T>C | ||
| ENST00000689484.1:c.-220-21467T>C | ENSP00000509884.1:n.-220-21467T>C | |
| ENST00000689797.1:c.-220-21467T>C | ENSP00000510689.1:n.-220-21467T>C | |
| ENST00000690544.1:c.35T>C | ENSP00000508989.1:p.Ile12Thr | |
| ENST00000692038.1:c.*284T>C | ENSP00000509220.1:n.*284T>C | |
| ENST00000692953.1:n.62+15290T>C | ||
| ENST00000692979.1:c.35T>C | ENSP00000509849.1:p.Ile12Thr | |
| ENST00000358913.10:c.35T>C MANE Select | ENSP00000351790.5:p.Ile12Thr | |
| ENST00000354393.6:c.77+14672T>C | ENSP00000346369.2:n.77+14672T>C | |
| ENST00000358913.9:c.35T>C | ENSP00000351790.5:p.Ile12Thr | |
| ENST00000373675.3:c.35T>C | ENSP00000362779.3:p.Ile12Thr | |
| ENST00000540630.5:c.35T>C | ENSP00000441668.2:p.Ile12Thr | |
| ENST00000613327.4:c.-1088T>C | ENSP00000480757.1:n.-1088T>C | |
| NM_001256267.1:c.35T>C | NP_001243196.1:p.Ile12Thr | |
| NM_001256268.1:c.-1088T>C | NP_001243197.1:n.-1088T>C | |
| NM_032578.3:c.35T>C , LRG_410t1:c.35T>C | NP_115967.2:p.Ile12Thr | |
| NR_045662.3:n.329+14672T>C | ||
| NR_045663.3:n.327T>C | ||
| XM_006718043.2:c.35T>C | XP_006718106.1:p.Ile12Thr | |
| XM_011540292.1:c.35T>C | XP_011538594.1:p.Ile12Thr | |
| XM_017016833.1:c.113T>C | XP_016872322.1:p.Ile38Thr | |
| XM_017016834.2:c.35T>C | XP_016872323.1:p.Ile12Thr | |
| XM_024448236.1:c.-221+15290T>C | XP_024304004.1:n.-221+15290T>C | |
| NR_045662.4:n.439+14672T>C | ||
| NR_045663.4:n.272T>C | ||
| NM_001256267.2:c.35T>C | NP_001243196.1:p.Ile12Thr | |
| NM_001256268.2:c.-1088T>C | NP_001243197.1:n.-1088T>C | |
| NM_032578.4:c.35T>C MANE Select | NP_115967.2:p.Ile12Thr |