Linked Data
ClinVar Variation Id:
161681
ClinVar RCV Id:
RCV000149217
dbSNP Id:
rs193921089
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19845333C>A , CM000679.2:g.19845333C>A | GRCh38 |
| NC_000017.10:g.19748646C>A , CM000679.1:g.19748646C>A | GRCh37 |
| NC_000017.9:g.19689238C>A | NCBI36 |
| NG_047113.1:g.27594G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395544.9:c.514G>T MANE Select | ENSP00000378914.4:p.Ala172Ser | |
| ENST00000361658.6:c.514G>T | ENSP00000354877.2:p.Ala172Ser | |
| ENST00000395544.8:c.514G>T | ENSP00000378914.4:p.Ala172Ser | |
| ENST00000574732.6:c.320G>T | ||
| ENST00000580118.2:c.438G>T | ||
| NM_001142610.1:c.514G>T | NP_001136082.1:p.Ala172Ser | |
| NM_014683.3:c.514G>T | NP_055498.3:p.Ala172Ser | |
| XM_011524087.1:c.160G>T | XP_011522389.1:p.Ala54Ser | |
| XR_934124.1:n.848G>T | ||
| XR_934125.1:n.848G>T | ||
| XM_011524087.2:c.160G>T | XP_011522389.1:p.Ala54Ser | |
| XM_017025424.2:c.577G>T | XP_016880913.1:p.Ala193Ser | |
| XM_017025425.2:c.577G>T | XP_016880914.1:p.Ala193Ser | |
| XM_017025426.2:c.577G>T | XP_016880915.1:p.Ala193Ser | |
| XM_017025427.2:c.-205G>T | XP_016880916.1:n.-205G>T | |
| XM_017025428.2:c.-205G>T | XP_016880917.1:n.-205G>T | |
| XR_001752700.2:n.1057G>T | ||
| XR_001752701.2:n.1057G>T | ||
| NM_014683.4:c.514G>T MANE Select | NP_055498.3:p.Ala172Ser | |
| NM_001142610.2:c.514G>T | NP_001136082.1:p.Ala172Ser |