Linked Data
gnomAD v4:
6-143485243-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485243G>T , CM000668.2:g.143485243G>T | GRCh38 |
| NC_000006.11:g.143806380G>T , CM000668.1:g.143806380G>T | GRCh37 |
| NC_000006.10:g.143848073G>T | NCBI36 |
| NG_008459.1:g.39463G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.1033G>T MANE Select | ENSP00000356563.4:p.Val345Phe | |
| ENST00000367591.4:c.1033G>T | ENSP00000356563.4:p.Val345Phe | |
| ENST00000585848.1:n.172G>T | ||
| NM_003630.2:c.1033G>T | NP_003621.1:p.Val345Phe | |
| NM_003630.3:c.1033G>T MANE Select | NP_003621.1:p.Val345Phe |