Linked Data
ClinVar Variation Id:
17702
ClinVar RCV Id:
RCV000019276
dbSNP Id:
rs121912766
gnomAD v4:
14-53950222-G-A
PubMed:
PMID:19249007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53950222G>A , CM000676.2:g.53950222G>A | GRCh38 |
| NC_000014.8:g.54416940G>A , CM000676.1:g.54416940G>A | GRCh37 |
| NC_000014.7:g.53486690G>A | NCBI36 |
| NG_009215.1:g.11615C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245451.9:c.1037C>T MANE Select | ENSP00000245451.4:p.Ala346Val | |
| ENST00000245451.8:c.1037C>T | ENSP00000245451.4:p.Ala346Val | |
| ENST00000417573.5:c.1037C>T | ENSP00000394165.1:p.Ala346Val | |
| ENST00000558984.1:c.1037C>T | ENSP00000454134.1:p.Ala346Val | |
| ENST00000559087.5:c.1037C>T | ENSP00000453485.1:p.Ala346Val | |
| NM_001202.3:c.1037C>T | NP_001193.2:p.Ala346Val | |
| NM_130850.2:c.1037C>T | NP_570911.2:p.Ala346Val | |
| NM_130851.2:c.1037C>T | NP_570912.2:p.Ala346Val | |
| XM_005268015.3:c.1037C>T | XP_005268072.1:p.Ala346Val | |
| NM_001202.5:c.1037C>T | NP_001193.2:p.Ala346Val | |
| NM_001347912.1:c.1178C>T | NP_001334841.1:p.Ala393Val | |
| NM_001347913.1:c.848C>T | NP_001334842.1:p.Ala283Val | |
| NM_001347914.1:c.1037C>T | NP_001334843.1:p.Ala346Val | |
| NM_001347915.1:c.848C>T | NP_001334844.1:p.Ala283Val | |
| NM_001347916.1:c.1037C>T | NP_001334845.1:p.Ala346Val | |
| NM_001347917.1:c.848C>T | NP_001334846.1:p.Ala283Val | |
| NM_130850.4:c.1037C>T | NP_570911.2:p.Ala346Val | |
| NM_130851.3:c.1037C>T | NP_570912.2:p.Ala346Val | |
| NM_001202.6:c.1037C>T MANE Select | NP_001193.2:p.Ala346Val | |
| NM_130850.5:c.1037C>T | NP_570911.2:p.Ala346Val | |
| NM_001347913.2:c.848C>T | NP_001334842.1:p.Ala283Val | |
| NM_001347914.2:c.1037C>T | NP_001334843.1:p.Ala346Val | |
| NM_001347915.2:c.848C>T | NP_001334844.1:p.Ala283Val | |
| NM_130851.4:c.1037C>T | NP_570912.2:p.Ala346Val |