Linked Data
ClinVar Variation Id:
311425
dbSNP Id:
rs201876493
ExAC:
13:22275463 G / T
gnomAD v2:
13-22275463-G-T
gnomAD v3:
13-21701324-G-T
gnomAD v4:
13-21701324-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.21701324G>T , CM000675.2:g.21701324G>T | GRCh38 |
| NC_000013.10:g.22275463G>T , CM000675.1:g.22275463G>T | GRCh37 |
| NC_000013.9:g.21173463G>T | NCBI36 |
| NG_016272.1:g.35249G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382353.6:c.516G>T MANE Select | ENSP00000371790.5:p.Pro172= | |
| ENST00000382353.5:c.516G>T | ENSP00000371790.5:p.Pro172= | |
| ENST00000478546.1:n.276G>T | ||
| NM_002010.2:c.516G>T | NP_002001.1:p.Pro172= | |
| XM_011534996.1:c.366G>T | XP_011533298.1:p.Pro122= | |
| XM_011534996.2:c.366G>T | XP_011533298.1:p.Pro122= | |
| NM_002010.3:c.516G>T MANE Select | NP_002001.1:p.Pro172= |