Linked Data
ClinVar Variation Id:
1160522
ClinVar RCV Id:
RCV001504700
dbSNP Id:
rs780486689
ExAC:
2:29293948 G / T
gnomAD v2:
2-29293948-G-T
gnomAD v3:
2-29071082-G-T
gnomAD v4:
2-29071082-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071082G>T , CM000664.2:g.29071082G>T | GRCh38 |
| NC_000002.11:g.29293948G>T , CM000664.1:g.29293948G>T | GRCh37 |
| NC_000002.10:g.29147452G>T | NCBI36 |
| NG_021427.1:g.8180C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3180C>A MANE Select | ENSP00000332809.4:p.Pro1060= | |
| ENST00000331664.5:c.3180C>A | ENSP00000332809.4:p.Pro1060= | |
| NM_001029883.2:c.3180C>A | NP_001025054.1:p.Pro1060= | |
| XM_011532826.1:c.3180C>A | XP_011531128.1:p.Pro1060= | |
| XR_939901.1:n.185+1915G>T | ||
| XR_939902.1:n.173+1927G>T | ||
| NM_001029883.3:c.3180C>A MANE Select | NP_001025054.1:p.Pro1060= |