Linked Data
gnomAD v4:
1-196996069-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996069G>T , CM000663.2:g.196996069G>T | GRCh38 |
| NC_000001.10:g.196965199G>T , CM000663.1:g.196965199G>T | GRCh37 |
| NC_000001.9:g.195231822G>T | NCBI36 |
| NG_016365.1:g.23533G>T , LRG_227:g.23533G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.583G>T | ENSP00000514393.1:p.Val195Phe | |
| ENST00000699467.1:n.907G>T | ||
| ENST00000699468.1:c.-24-45G>T | ENSP00000514394.1:n.-24-45G>T | |
| ENST00000256785.5:c.838G>T MANE Select | ENSP00000256785.4:p.Val280Phe | |
| ENST00000256785.4:c.838G>T | ENSP00000256785.4:p.Val280Phe | |
| NM_030787.3:c.838G>T , LRG_227t1:c.838G>T | NP_110414.1:p.Val280Phe | |
| XM_011510020.1:c.847G>T | XP_011508322.1:p.Val283Phe | |
| XM_011510020.2:c.847G>T | XP_011508322.1:p.Val283Phe | |
| NM_030787.4:c.838G>T MANE Select | NP_110414.1:p.Val280Phe |