Linked Data
gnomAD v4:
4-119164375-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119164375G>T , CM000666.2:g.119164375G>T | GRCh38 |
| NC_000004.11:g.120085530G>T , CM000666.1:g.120085530G>T | GRCh37 |
| NC_000004.10:g.120304978G>T | NCBI36 |
| NG_029747.1:g.33592G>T , LRG_396:g.33592G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.541G>T MANE Select | ENSP00000306997.6:p.Asp181Tyr | |
| ENST00000307128.5:c.541G>T | ENSP00000306997.5:p.Asp181Tyr | |
| NM_016599.4:c.541G>T , LRG_396t1:c.541G>T | NP_057683.1:p.Asp181Tyr | |
| XM_006714234.2:c.541G>T | XP_006714297.1:p.Asp181Tyr | |
| XM_006714234.4:c.541G>T | XP_006714297.1:p.Asp181Tyr | |
| NM_016599.5:c.541G>T MANE Select | NP_057683.1:p.Asp181Tyr |