Linked Data
ClinVar Variation Id:
519188
ClinVar RCV Id:
RCV000617654
dbSNP Id:
rs1555120318
gnomAD v4:
11-47332696-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332696G>C , CM000673.2:g.47332696G>C | GRCh38 |
| NC_000011.9:g.47354247G>C , CM000673.1:g.47354247G>C | GRCh37 |
| NC_000011.8:g.47310823G>C | NCBI36 |
| NG_007667.1:g.25007C>G , LRG_386:g.25007C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3497C>G MANE Select | ENSP00000442795.1:p.Thr1166Ser | |
| ENST00000256993.8:c.3497C>G | ENSP00000256993.5:p.Thr1166Ser | |
| ENST00000399249.6:c.3497C>G | ENSP00000382193.2:p.Thr1166Ser | |
| ENST00000545968.5:c.3497C>G | ENSP00000442795.1:p.Thr1166Ser | |
| NM_000256.3:c.3497C>G , LRG_386t1:c.3497C>G MANE Select | NP_000247.2:p.Thr1166Ser | |
| XM_011520117.1:c.3479C>G | XP_011518419.1:p.Thr1160Ser | |
| XM_011520118.1:c.3416C>G | XP_011518420.1:p.Thr1139Ser |