Linked Data
gnomAD v4:
6-6318547-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6318547C>A , CM000668.2:g.6318547C>A | GRCh38 |
| NC_000006.11:g.6318780C>A , CM000668.1:g.6318780C>A | GRCh37 |
| NC_000006.10:g.6263779C>A | NCBI36 |
| NG_008107.1:g.7145G>T , LRG_549:g.7145G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.118G>T MANE Select | ENSP00000264870.3:p.Val40Phe | |
| ENST00000264870.7:c.118G>T | ENSP00000264870.3:p.Val40Phe | |
| ENST00000414279.5:c.118G>T | ENSP00000413334.1:p.Val40Phe | |
| ENST00000431222.6:c.280G>T | ENSP00000416295.2:p.Val94Phe | |
| ENST00000451619.1:c.192G>T | ||
| NM_000129.3:c.118G>T , LRG_549t1:c.118G>T | NP_000120.2:p.Val40Phe | |
| XM_006715010.2:c.118G>T | XP_006715073.1:p.Val40Phe | |
| XM_011514342.1:c.280G>T | XP_011512644.1:p.Val94Phe | |
| NM_000129.4:c.118G>T MANE Select | NP_000120.2:p.Val40Phe |