Linked Data
ClinVar Variation Id:
1731178
ClinVar RCV Id:
RCV002332993
dbSNP Id:
rs1256416666
gnomAD v3:
10-68199493-T-C
gnomAD v4:
10-68199493-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68199493T>C , CM000672.2:g.68199493T>C | GRCh38 |
| NC_000010.10:g.69959250T>C , CM000672.1:g.69959250T>C | GRCh37 |
| NC_000010.9:g.69629256T>C | NCBI36 |
| NG_032118.1:g.98377T>C , LRG_410:g.98377T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2586T>C | ENSP00000346369.2:p.Thr862= | |
| ENST00000540630.6:c.3465T>C | ENSP00000441668.3:p.Thr1155= | |
| ENST00000613327.5:c.3411T>C | ENSP00000480757.2:p.Thr1137= | |
| ENST00000688812.1:c.*674T>C | ENSP00000510658.1:n.*674T>C | |
| ENST00000690544.1:c.*2682T>C | ENSP00000508989.1:n.*2682T>C | |
| ENST00000358913.10:c.3411T>C MANE Select | ENSP00000351790.5:p.Thr1137= | |
| ENST00000354393.6:c.2586T>C | ENSP00000346369.2:p.Thr862= | |
| ENST00000358913.9:c.3411T>C | ENSP00000351790.5:p.Thr1137= | |
| ENST00000540630.5:c.3411T>C | ENSP00000441668.2:p.Thr1137= | |
| ENST00000613327.4:c.2529T>C | ENSP00000480757.1:p.Thr843= | |
| NM_001256267.1:c.3411T>C | NP_001243196.1:p.Thr1137= | |
| NM_001256268.1:c.2529T>C | NP_001243197.1:p.Thr843= | |
| NM_032578.3:c.3411T>C , LRG_410t1:c.3411T>C | NP_115967.2:p.Thr1137= | |
| NR_045662.3:n.2838T>C | ||
| NR_045663.3:n.3540T>C | ||
| XM_006718043.2:c.3465T>C | XP_006718106.1:p.Thr1155= | |
| XM_011540292.1:c.3441T>C | XP_011538594.1:p.Thr1147= | |
| XR_946029.1:n.1804-218A>G | ||
| XM_017016833.1:c.3489T>C | XP_016872322.1:p.Thr1163= | |
| XM_017016834.2:c.3411T>C | XP_016872323.1:p.Thr1137= | |
| XM_024448236.1:c.2289T>C | XP_024304004.1:p.Thr763= | |
| NR_045662.4:n.2948T>C | ||
| NR_045663.4:n.3485T>C | ||
| NM_001256267.2:c.3411T>C | NP_001243196.1:p.Thr1137= | |
| NM_001256268.2:c.2529T>C | NP_001243197.1:p.Thr843= | |
| NM_032578.4:c.3411T>C MANE Select | NP_115967.2:p.Thr1137= |