Linked Data
ClinVar Variation Id:
207858
ClinVar RCV Id:
RCV000190148
dbSNP Id:
rs796052158
PubMed:
PMID:26132555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.90844052G>T , CM000671.2:g.90844052G>T | GRCh38 |
| NC_000009.11:g.93606334G>T , CM000671.1:g.93606334G>T | GRCh37 |
| NC_000009.10:g.92646155G>T | NCBI36 |
| NG_017046.1:g.47323G>T | |
| NG_017046.2:g.47323G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375754.9:c.154G>T MANE Select | ENSP00000364907.4:p.Ala52Ser | |
| ENST00000375746.1:c.154G>T | ENSP00000364898.1:p.Ala52Ser | |
| ENST00000375747.5:c.154G>T | ENSP00000364899.1:p.Ala52Ser | |
| ENST00000375751.8:c.154G>T | ENSP00000364904.4:p.Ala52Ser | |
| ENST00000375754.8:c.154G>T | ENSP00000364907.4:p.Ala52Ser | |
| ENST00000476708.1:n.273G>T | ||
| NM_001135052.3:c.154G>T | NP_001128524.1:p.Ala52Ser | |
| NM_001174167.2:c.154G>T | NP_001167638.1:p.Ala52Ser | |
| NM_001174168.2:c.154G>T | NP_001167639.1:p.Ala52Ser | |
| NM_003177.6:c.154G>T | NP_003168.2:p.Ala52Ser | |
| XM_005252147.2:c.154G>T | XP_005252204.1:p.Ala52Ser | |
| XM_011518946.1:c.154G>T | XP_011517248.1:p.Ala52Ser | |
| XM_011518947.1:c.154G>T | XP_011517249.1:p.Ala52Ser | |
| XR_929837.1:n.320G>T | ||
| XM_005252147.4:c.154G>T | XP_005252204.1:p.Ala52Ser | |
| XM_011518946.3:c.154G>T | XP_011517248.1:p.Ala52Ser | |
| XR_001746370.2:n.320G>T | ||
| NM_003177.7:c.154G>T MANE Select | NP_003168.2:p.Ala52Ser | |
| NM_001135052.4:c.154G>T | NP_001128524.1:p.Ala52Ser | |
| NM_001174167.3:c.154G>T | NP_001167638.1:p.Ala52Ser | |
| NM_001174168.3:c.154G>T | NP_001167639.1:p.Ala52Ser |