Linked Data
ClinVar Variation Id:
8894
ClinVar RCV Id:
RCV000009444
dbSNP Id:
rs104894052
gnomAD v4:
7-155803294-A-G
PubMed:
PMID:15103725
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155803294A>G , CM000669.2:g.155803294A>G | GRCh38 |
| NC_000007.13:g.155595988A>G , CM000669.1:g.155595988A>G | GRCh37 |
| NC_000007.12:g.155288749A>G | NCBI36 |
| NG_007504.2:g.13980T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297261.7:c.995T>C MANE Select | ENSP00000297261.2:p.Val332Ala | |
| ENST00000297261.6:c.995T>C | ENSP00000297261.2:p.Val332Ala | |
| ENST00000430104.5:c.301+3002T>C | ENSP00000396621.1:n.301+3002T>C | |
| ENST00000435425.1:c.302-2697T>C | ENSP00000413871.1:n.302-2697T>C | |
| ENST00000441114.5:c.302-2627T>C | ENSP00000410546.1:n.302-2627T>C | |
| NM_000193.2:c.995T>C | NP_000184.1:p.Val332Ala | |
| NM_000193.3:c.995T>C | NP_000184.1:p.Val332Ala | |
| NM_001310462.1:c.301+3002T>C | NP_001297391.1:n.301+3002T>C | |
| NR_132318.1:n.472-2627T>C | ||
| NR_132319.1:n.472-2697T>C | ||
| XM_011516479.1:c.734T>C | XP_011514781.1:p.Val245Ala | |
| XM_011516480.1:c.734T>C | XP_011514782.1:p.Val245Ala | |
| XM_011516481.1:c.734T>C | XP_011514783.1:p.Val245Ala | |
| XM_011516482.1:c.656T>C | XP_011514784.1:p.Val219Ala | |
| XM_011516479.2:c.734T>C | XP_011514781.1:p.Val245Ala | |
| XM_011516480.2:c.734T>C | XP_011514782.1:p.Val245Ala | |
| NM_000193.4:c.995T>C MANE Select | NP_000184.1:p.Val332Ala | |
| NM_001310462.2:c.301+3002T>C | NP_001297391.1:n.301+3002T>C | |
| NR_132318.2:n.563-2627T>C | ||
| NR_132319.2:n.563-2697T>C |