Linked Data
ClinVar Variation Id:
197190
dbSNP Id:
rs17563
ExAC:
14:54417522 A / G
gnomAD v2:
14-54417522-A-G
gnomAD v3:
14-53950804-A-G
gnomAD v4:
14-53950804-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53950804A>G , CM000676.2:g.53950804A>G | GRCh38 |
| NC_000014.8:g.54417522A>G , CM000676.1:g.54417522A>G | GRCh37 |
| NC_000014.7:g.53487272A>G | NCBI36 |
| NG_009215.1:g.11033T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245451.9:c.455T>C MANE Select | ENSP00000245451.4:p.Val152Ala | |
| ENST00000245451.8:c.455T>C | ENSP00000245451.4:p.Val152Ala | |
| ENST00000417573.5:c.455T>C | ENSP00000394165.1:p.Val152Ala | |
| ENST00000558961.1:c.313T>C | ENSP00000453691.1:p.Ter105Arg | |
| ENST00000558984.1:c.455T>C | ENSP00000454134.1:p.Val152Ala | |
| ENST00000559087.5:c.455T>C | ENSP00000453485.1:p.Val152Ala | |
| ENST00000559501.1:c.266T>C | ENSP00000453365.1:p.Val89Ala | |
| NM_001202.3:c.455T>C | NP_001193.2:p.Val152Ala | |
| NM_130850.2:c.455T>C | NP_570911.2:p.Val152Ala | |
| NM_130851.2:c.455T>C | NP_570912.2:p.Val152Ala | |
| XM_005268015.3:c.455T>C | XP_005268072.1:p.Val152Ala | |
| NM_001202.5:c.455T>C | NP_001193.2:p.Val152Ala | |
| NM_001347912.1:c.596T>C | NP_001334841.1:p.Val199Ala | |
| NM_001347913.1:c.266T>C | NP_001334842.1:p.Val89Ala | |
| NM_001347914.1:c.455T>C | NP_001334843.1:p.Val152Ala | |
| NM_001347915.1:c.266T>C | NP_001334844.1:p.Val89Ala | |
| NM_001347916.1:c.455T>C | NP_001334845.1:p.Val152Ala | |
| NM_001347917.1:c.266T>C | NP_001334846.1:p.Val89Ala | |
| NM_130850.4:c.455T>C | NP_570911.2:p.Val152Ala | |
| NM_130851.3:c.455T>C | NP_570912.2:p.Val152Ala | |
| NM_001202.6:c.455T>C MANE Select | NP_001193.2:p.Val152Ala | |
| NM_130850.5:c.455T>C | NP_570911.2:p.Val152Ala | |
| NM_001347913.2:c.266T>C | NP_001334842.1:p.Val89Ala | |
| NM_001347914.2:c.455T>C | NP_001334843.1:p.Val152Ala | |
| NM_001347915.2:c.266T>C | NP_001334844.1:p.Val89Ala | |
| NM_130851.4:c.455T>C | NP_570912.2:p.Val152Ala |