Linked Data
dbSNP Id:
rs773251730
ExAC:
3:8787561 T / C
gnomAD v2:
3-8787561-T-C
gnomAD v4:
3-8745875-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745875T>C , CM000665.2:g.8745875T>C | GRCh38 |
| NC_000003.11:g.8787561T>C , CM000665.1:g.8787561T>C | GRCh37 |
| NC_000003.10:g.8762561T>C | NCBI36 |
| NG_008797.2:g.17066T>C , LRG_329:g.17066T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.*8T>C MANE Select | ENSP00000341940.2:n.*8T>C | |
| ENST00000343849.2:c.*8T>C | ENSP00000341940.2:n.*8T>C | |
| ENST00000397368.2:c.*6+2T>C | ENSP00000380525.2:n.*6+2T>C | |
| ENST00000472766.1:n.155+11885T>C | ||
| NM_001234.4:c.*6+2T>C | NP_001225.1:n.*6+2T>C | |
| NM_033337.2:c.*8T>C , LRG_329t1:c.*8T>C | NP_203123.1:n.*8T>C | |
| NM_001234.5:c.*6+2T>C | NP_001225.1:n.*6+2T>C | |
| NM_033337.3:c.*8T>C MANE Select | NP_203123.1:n.*8T>C |