Linked Data
gnomAD v4:
5-1411117-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1411117A>T , CM000667.2:g.1411117A>T | GRCh38 |
| NC_000005.9:g.1411232A>T , CM000667.1:g.1411232A>T | GRCh37 |
| NC_000005.8:g.1464232A>T | NCBI36 |
| NG_015885.1:g.39312T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1269+126T>A MANE Select | ENSP00000270349.9:n.1269+126T>A | |
| ENST00000270349.11:c.1269+126T>A | ENSP00000270349.9:n.1269+126T>A | |
| NM_001044.4:c.1269+126T>A | NP_001035.1:n.1269+126T>A | |
| NM_001044.5:c.1269+126T>A MANE Select | NP_001035.1:n.1269+126T>A |