Linked Data
gnomAD v4:
6-6145665-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145665A>T , CM000668.2:g.6145665A>T | GRCh38 |
| NC_000006.11:g.6145898A>T , CM000668.1:g.6145898A>T | GRCh37 |
| NC_000006.10:g.6090897A>T | NCBI36 |
| NG_008107.1:g.180027T>A , LRG_549:g.180027T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.2153T>A MANE Select | ENSP00000264870.3:p.Val718Glu | |
| ENST00000264870.7:c.2153T>A | ENSP00000264870.3:p.Val718Glu | |
| NM_000129.3:c.2153T>A , LRG_549t1:c.2153T>A | NP_000120.2:p.Val718Glu | |
| XM_006715010.2:c.2153T>A | XP_006715073.1:p.Val718Glu | |
| XM_011514342.1:c.2315T>A | XP_011512644.1:p.Val772Glu | |
| NM_000129.4:c.2153T>A MANE Select | NP_000120.2:p.Val718Glu |