Linked Data
gnomAD v4:
3-8745947-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745947G>T , CM000665.2:g.8745947G>T | GRCh38 |
| NC_000003.11:g.8787633G>T , CM000665.1:g.8787633G>T | GRCh37 |
| NC_000003.10:g.8762633G>T | NCBI36 |
| NG_008797.2:g.17138G>T , LRG_329:g.17138G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.*80G>T MANE Select | ENSP00000341940.2:n.*80G>T | |
| ENST00000343849.2:c.*80G>T | ENSP00000341940.2:n.*80G>T | |
| ENST00000397368.2:c.*7-23G>T | ENSP00000380525.2:n.*7-23G>T | |
| ENST00000472766.1:n.155+11957G>T | ||
| NM_001234.4:c.*7-23G>T | NP_001225.1:n.*7-23G>T | |
| NM_033337.2:c.*80G>T , LRG_329t1:c.*80G>T | NP_203123.1:n.*80G>T | |
| NM_001234.5:c.*7-23G>T | NP_001225.1:n.*7-23G>T | |
| NM_033337.3:c.*80G>T MANE Select | NP_203123.1:n.*80G>T |