Linked Data
dbSNP Id:
rs759989431
gnomAD v4:
4-119164374-T-A
MyVariant Identifiers:
chr4:g.120085529T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119164374T>A , CM000666.2:g.119164374T>A | GRCh38 |
| NC_000004.11:g.120085529T>A , CM000666.1:g.120085529T>A | GRCh37 |
| NC_000004.10:g.120304977T>A | NCBI36 |
| NG_029747.1:g.33591T>A , LRG_396:g.33591T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.540T>A MANE Select | ENSP00000306997.6:p.Pro180= | |
| ENST00000307128.5:c.540T>A | ENSP00000306997.5:p.Pro180= | |
| NM_016599.4:c.540T>A , LRG_396t1:c.540T>A | NP_057683.1:p.Pro180= | |
| XM_006714234.2:c.540T>A | XP_006714297.1:p.Pro180= | |
| XM_006714234.4:c.540T>A | XP_006714297.1:p.Pro180= | |
| NM_016599.5:c.540T>A MANE Select | NP_057683.1:p.Pro180= |