Linked Data
ClinVar Variation Id:
7755
dbSNP Id:
rs121909799
gnomAD v2:
12-48240201-A-C
gnomAD v4:
12-47846418-A-C
PubMed:
PMID:8961271
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47846418A>C , CM000674.2:g.47846418A>C | GRCh38 |
| NC_000012.11:g.48240201A>C , CM000674.1:g.48240201A>C | GRCh37 |
| NC_000012.10:g.46526468A>C | NCBI36 |
| NG_008731.1:g.63614T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229022.9:c.941T>G | ENSP00000229022.5:p.Ile314Ser | |
| ENST00000549336.6:c.941T>G MANE Select | ENSP00000449573.2:p.Ile314Ser | |
| ENST00000229022.7:c.941T>G | ENSP00000229022.3:p.Ile314Ser | |
| ENST00000395324.6:c.941T>G | ENSP00000378734.2:p.Ile314Ser | |
| ENST00000547065.1:c.*943T>G | ENSP00000449074.1:n.*943T>G | |
| ENST00000549336.5:c.941T>G | ENSP00000449573.1:p.Ile314Ser | |
| ENST00000550325.5:c.1091T>G | ENSP00000447173.1:p.Ile364Ser | |
| NM_000376.2:c.941T>G | NP_000367.1:p.Ile314Ser | |
| NM_001017535.1:c.941T>G | NP_001017535.1:p.Ile314Ser | |
| NM_001017536.1:c.1091T>G | NP_001017536.1:p.Ile364Ser | |
| XM_006719587.2:c.941T>G | XP_006719650.1:p.Ile314Ser | |
| XM_011538720.1:c.941T>G | XP_011537022.1:p.Ile314Ser | |
| NM_001364085.1:c.941T>G | NP_001351014.1:p.Ile314Ser | |
| XM_006719587.3:c.941T>G | XP_006719650.1:p.Ile314Ser | |
| XM_011538720.2:c.941T>G | XP_011537022.1:p.Ile314Ser | |
| XM_024449178.1:c.1010T>G | XP_024304946.1:p.Ile337Ser | |
| NM_000376.3:c.941T>G MANE Select | NP_000367.1:p.Ile314Ser | |
| NM_001017535.2:c.941T>G | NP_001017535.1:p.Ile314Ser | |
| NM_001017536.2:c.1091T>G | NP_001017536.1:p.Ile364Ser | |
| NM_001364085.2:c.941T>G | NP_001351014.1:p.Ile314Ser | |
| NM_001374661.1:c.941T>G | NP_001361590.1:p.Ile314Ser | |
| NM_001374662.1:c.941T>G | NP_001361591.1:p.Ile314Ser |