Linked Data
gnomAD v4:
12-108250418-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108250418G>T , CM000674.2:g.108250418G>T | GRCh38 |
| NC_000012.11:g.108644195G>T , CM000674.1:g.108644195G>T | GRCh37 |
| NC_000012.10:g.107168325G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547525.6:c.*2075G>T MANE Select | ENSP00000448047.1:n.*2075G>T | |
| ENST00000332082.8:c.*2075G>T | ENSP00000331933.4:n.*2075G>T | |
| NM_001304447.1:c.*2075G>T | NP_001291376.1:n.*2075G>T | |
| NM_014653.3:c.*2075G>T | NP_055468.2:n.*2075G>T | |
| NM_014653.4:c.*2075G>T MANE Select | NP_055468.2:n.*2075G>T | |
| NM_001304447.2:c.*2075G>T | NP_001291376.1:n.*2075G>T |