Linked Data
ClinVar Variation Id:
239631
dbSNP Id:
rs764351261
ExAC:
6:133802594 T / C
gnomAD v2:
6-133802594-T-C
gnomAD v3:
6-133481456-T-C
gnomAD v4:
6-133481456-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.133481456T>C , CM000668.2:g.133481456T>C | GRCh38 |
| NC_000006.11:g.133802594T>C , CM000668.1:g.133802594T>C | GRCh37 |
| NC_000006.10:g.133844287T>C | NCBI36 |
| NG_011596.1:g.245100T>C | |
| NG_011596.2:g.245100T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525849.7:c.902-7T>C | ENSP00000433219.1:n.902-7T>C | |
| ENST00000706301.1:c.809-7T>C | ENSP00000516341.1:n.809-7T>C | |
| ENST00000355167.8:c.827-7T>C | ENSP00000347294.4:n.827-7T>C | |
| ENST00000497350.3:n.1202-7T>C | ||
| ENST00000683325.1:c.494-7T>C | ENSP00000508141.1:n.494-7T>C | |
| ENST00000684773.1:c.494-7T>C | ENSP00000506812.1:n.494-7T>C | |
| ENST00000355286.12:c.971-7T>C MANE Select | ENSP00000347434.7:n.971-7T>C | |
| ENST00000431403.3:c.902-7T>C | ENSP00000404558.3:n.902-7T>C | |
| ENST00000525849.6:c.902-7T>C | ENSP00000433219.1:n.902-7T>C | |
| ENST00000355167.7:c.971-7T>C | ENSP00000347294.3:n.971-7T>C | |
| ENST00000355286.10:c.902-7T>C | ENSP00000347434.6:n.902-7T>C | |
| ENST00000367895.9:c.971-7T>C | ENSP00000356870.5:n.971-7T>C | |
| ENST00000430974.6:c.827-7T>C | ENSP00000388670.2:n.827-7T>C | |
| ENST00000431403.2:c.971-7T>C | ENSP00000404558.2:n.971-7T>C | |
| ENST00000452339.6:c.809-7T>C | ENSP00000395916.2:n.809-7T>C | |
| ENST00000525849.5:c.902-7T>C | ENSP00000433219.1:n.902-7T>C | |
| ENST00000531861.5:n.971-7T>C | ||
| ENST00000531901.5:c.989-7T>C | ENSP00000432770.1:n.989-7T>C | |
| ENST00000532518.1:n.317-7T>C | ||
| NM_001301012.1:c.809-7T>C | NP_001287941.1:n.809-7T>C | |
| NM_001301013.1:c.989-7T>C | NP_001287942.1:n.989-7T>C | |
| NM_004100.4:c.971-7T>C | NP_004091.3:n.971-7T>C | |
| NM_172103.3:c.902-7T>C | NP_742101.2:n.902-7T>C | |
| NM_172105.3:c.971-7T>C | NP_742103.1:n.971-7T>C | |
| XM_005266851.3:c.989-7T>C | XP_005266908.1:n.989-7T>C | |
| XM_005266852.3:c.989-7T>C | XP_005266909.1:n.989-7T>C | |
| XM_005266853.3:c.902-7T>C | XP_005266910.1:n.902-7T>C | |
| XM_011535540.1:c.920-7T>C | XP_011533842.1:n.920-7T>C | |
| XM_011535541.1:c.905-7T>C | XP_011533843.1:n.905-7T>C | |
| XM_011535542.1:c.827-7T>C | XP_011533844.1:n.827-7T>C | |
| XM_005266851.5:c.989-7T>C | XP_005266908.1:n.989-7T>C | |
| XM_005266853.5:c.902-7T>C | XP_005266910.1:n.902-7T>C | |
| XM_017010368.2:c.989-7T>C | XP_016865857.1:n.989-7T>C | |
| XM_017010369.2:c.971-7T>C | XP_016865858.1:n.971-7T>C | |
| XM_017010370.2:c.920-7T>C | XP_016865859.1:n.920-7T>C | |
| XM_017010371.2:c.905-7T>C | XP_016865860.1:n.905-7T>C | |
| XM_017010372.2:c.827-7T>C | XP_016865861.1:n.827-7T>C | |
| XM_017010373.2:c.809-7T>C | XP_016865862.1:n.809-7T>C | |
| XM_017010374.2:c.827-7T>C | XP_016865863.1:n.827-7T>C | |
| XM_017010375.1:c.827-7T>C | XP_016865864.1:n.827-7T>C | |
| XR_001743219.2:n.1151-7T>C | ||
| XR_001743220.2:n.1133-7T>C | ||
| NM_004100.5:c.971-7T>C MANE Select | NP_004091.3:n.971-7T>C | |
| NM_001370458.1:c.902-7T>C | NP_001357387.1:n.902-7T>C | |
| NM_001370459.1:c.827-7T>C | NP_001357388.1:n.827-7T>C | |
| NM_001301012.2:c.809-7T>C | NP_001287941.1:n.809-7T>C | |
| NM_001301013.2:c.989-7T>C | NP_001287942.1:n.989-7T>C | |
| NM_172103.4:c.902-7T>C | NP_742101.2:n.902-7T>C | |
| NM_172105.4:c.971-7T>C | NP_742103.1:n.971-7T>C |