Linked Data
ClinVar Variation Id:
1644695
dbSNP Id:
rs925315842
gnomAD v2:
11-74204334-G-A
gnomAD v3:
11-74493289-G-A
gnomAD v4:
11-74493289-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74493289G>A , CM000673.2:g.74493289G>A | GRCh38 |
| NC_000011.9:g.74204334G>A , CM000673.1:g.74204334G>A | GRCh37 |
| NC_000011.8:g.73881982G>A | NCBI36 |
| NG_051333.1:g.5425C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310109.5:c.415C>T MANE Select | ENSP00000309463.4:p.Pro139Ser | |
| ENST00000310109.4:c.415C>T | ENSP00000309463.4:p.Pro139Ser | |
| ENST00000527115.1:c.27C>T | ||
| ENST00000528085.1:c.181+178C>T | ||
| NM_001144869.1:c.415C>T | NP_001138341.1:p.Pro139Ser | |
| XM_011545021.1:c.415C>T | XP_011543323.1:p.Pro139Ser | |
| NM_001144869.2:c.415C>T | NP_001138341.1:p.Pro139Ser | |
| NM_001329941.1:c.415C>T | NP_001316870.1:p.Pro139Ser | |
| NM_001329942.1:c.237+178C>T | NP_001316871.1:n.237+178C>T | |
| NM_001144869.3:c.415C>T MANE Select | NP_001138341.1:p.Pro139Ser | |
| NM_001329941.2:c.415C>T | NP_001316870.1:p.Pro139Ser | |
| NM_001329942.2:c.237+178C>T | NP_001316871.1:n.237+178C>T |