Linked Data
ClinVar Variation Id:
2205266
ClinVar RCV Id:
RCV004073793
dbSNP Id:
rs145032506
ExAC:
4:81207542 G / T
gnomAD v2:
4-81207542-G-T
gnomAD v3:
4-80286388-G-T
gnomAD v4:
4-80286388-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286388G>T , CM000666.2:g.80286388G>T | GRCh38 |
| NC_000004.11:g.81207542G>T , CM000666.1:g.81207542G>T | GRCh37 |
| NC_000004.10:g.81426566G>T | NCBI36 |
| NG_029501.1:g.24801G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.523G>T MANE Select | ENSP00000311697.7:p.Ala175Ser | |
| ENST00000312465.11:c.523G>T | ENSP00000311697.7:p.Ala175Ser | |
| ENST00000456523.3:c.*47G>T | ENSP00000398353.3:n.*47G>T | |
| ENST00000503413.1:n.472G>T | ||
| ENST00000507780.1:c.342+11376G>T | ENSP00000423903.1:n.342+11376G>T | |
| NM_001291812.1:c.94G>T | NP_001278741.1:p.Ala32Ser | |
| NM_004464.3:c.523G>T | NP_004455.2:p.Ala175Ser | |
| NM_033143.2:c.*47G>T | NP_149134.1:n.*47G>T | |
| NM_001291812.2:c.94G>T | NP_001278741.1:p.Ala32Ser | |
| NM_004464.4:c.523G>T MANE Select | NP_004455.2:p.Ala175Ser |