Linked Data
ClinVar Variation Id:
2814834
ClinVar RCV Id:
RCV003683116
dbSNP Id:
rs1266178629
gnomAD v2:
11-128680680-T-A
gnomAD v3:
11-128810785-T-A
gnomAD v4:
11-128810785-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128810785T>A , CM000673.2:g.128810785T>A | GRCh38 |
| NC_000011.9:g.128680680T>A , CM000673.1:g.128680680T>A | GRCh37 |
| NC_000011.8:g.128185890T>A | NCBI36 |
| NG_032912.1:g.129251T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696982.1:c.1177T>A | ENSP00000513017.1:p.Ser393Thr | |
| ENST00000527786.7:c.1156T>A MANE Select | ENSP00000433488.2:p.Ser386Thr | |
| ENST00000281428.12:c.958T>A | ENSP00000281428.8:p.Ser320Thr | |
| ENST00000344954.10:c.577T>A | ENSP00000339627.7:p.Ser193Thr | |
| ENST00000429175.7:c.*1078T>A | ENSP00000399985.3:n.*1078T>A | |
| ENST00000527786.6:c.1156T>A | ENSP00000433488.2:p.Ser386Thr | |
| ENST00000528790.1:n.3739T>A | ||
| ENST00000534087.3:c.1057T>A | ENSP00000432950.1:p.Ser353Thr | |
| ENST00000608303.5:c.*548T>A | ENSP00000477262.1:n.*548T>A | |
| NM_001167681.2:c.1057T>A | NP_001161153.1:p.Ser353Thr | |
| NM_001271010.1:c.958T>A | NP_001257939.1:p.Ser320Thr | |
| NM_001271012.1:c.577T>A | NP_001257941.1:p.Ser193Thr | |
| NM_002017.4:c.1156T>A | NP_002008.2:p.Ser386Thr | |
| XM_011542701.1:c.1057T>A | XP_011541003.1:p.Ser353Thr | |
| XM_011542702.1:c.1030T>A | XP_011541004.1:p.Ser344Thr | |
| XM_011542701.2:c.1057T>A | XP_011541003.1:p.Ser353Thr | |
| XM_017017405.1:c.1057T>A | XP_016872894.1:p.Ser353Thr | |
| XM_017017406.1:c.1057T>A | XP_016872895.1:p.Ser353Thr | |
| NM_002017.5:c.1156T>A MANE Select | NP_002008.2:p.Ser386Thr | |
| NM_001167681.3:c.1057T>A | NP_001161153.1:p.Ser353Thr | |
| NM_001271010.2:c.958T>A | NP_001257939.1:p.Ser320Thr | |
| NM_001271012.2:c.577T>A | NP_001257941.1:p.Ser193Thr |