Linked Data
dbSNP Id:
rs775580363
ExAC:
20:32005712 C / A
gnomAD v2:
20-32005712-C-A
gnomAD v4:
20-33417906-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33417906C>A , CM000682.2:g.33417906C>A | GRCh38 |
| NC_000020.10:g.32005712C>A , CM000682.1:g.32005712C>A | GRCh37 |
| NC_000020.9:g.31469373C>A | NCBI36 |
| NG_011622.1:g.30987G>T , LRG_332:g.30987G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.514G>T MANE Select | ENSP00000217381.2:p.Val172Phe | |
| ENST00000217381.2:c.514G>T | ENSP00000217381.2:p.Val172Phe | |
| NM_003098.2:c.514G>T , LRG_332t1:c.514G>T | NP_003089.1:p.Val172Phe | |
| XM_005260517.1:c.514G>T | XP_005260574.1:p.Val172Phe | |
| XM_011529007.1:c.514G>T | XP_011527309.1:p.Val172Phe | |
| XM_011529008.1:c.514G>T | XP_011527310.1:p.Val172Phe | |
| XR_936612.1:n.747G>T | ||
| XM_024451971.1:c.187G>T | XP_024307739.1:p.Val63Phe | |
| NM_003098.3:c.514G>T MANE Select | NP_003089.1:p.Val172Phe |