Linked Data
ClinVar Variation Id:
1005913
ClinVar RCV Id:
RCV001302867
dbSNP Id:
rs749261239
ExAC:
21:45752996 G / A
gnomAD v2:
21-45752996-G-A
gnomAD v4:
21-44333113-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44333113G>A , CM000683.2:g.44333113G>A | GRCh38 |
| NC_000021.8:g.45752996G>A , CM000683.1:g.45752996G>A | GRCh37 |
| NC_000021.7:g.44577424G>A | NCBI36 |
| NG_032952.1:g.11290C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339818.9:c.293C>T MANE Select | ENSP00000344566.4:p.Pro98Leu | |
| ENST00000325223.7:c.293C>T | ENSP00000317302.7:p.Pro98Leu | |
| ENST00000339818.8:c.293C>T | ENSP00000344566.4:p.Pro98Leu | |
| ENST00000397956.7:c.293C>T | ENSP00000381047.3:p.Pro98Leu | |
| ENST00000462742.1:n.2464C>T | ||
| ENST00000478674.1:n.352C>T | ||
| ENST00000496321.5:n.409C>T | ||
| NM_001271440.1:c.293C>T | NP_001258369.1:p.Pro98Leu | |
| NM_001271441.1:c.293C>T | NP_001258370.1:p.Pro98Leu | |
| NM_001271442.1:c.170C>T | NP_001258371.1:p.Pro57Leu | |
| NM_004928.2:c.293C>T | NP_004919.1:p.Pro98Leu | |
| XM_006724051.2:c.368C>T | XP_006724114.1:p.Pro123Leu | |
| XM_006724052.2:c.368C>T | XP_006724115.1:p.Pro123Leu | |
| XM_006724053.2:c.-32C>T | XP_006724116.1:n.-32C>T | |
| XR_937571.1:n.496C>T | ||
| XM_006724051.3:c.368C>T | XP_006724114.1:p.Pro123Leu | |
| XM_006724053.3:c.-32C>T | XP_006724116.1:n.-32C>T | |
| XM_017028470.1:c.497C>T | XP_016883959.1:p.Pro166Leu | |
| XM_017028471.1:c.242C>T | XP_016883960.1:p.Pro81Leu | |
| XM_017028472.1:c.-32C>T | XP_016883961.1:n.-32C>T | |
| XR_937571.2:n.503C>T | ||
| NM_004928.3:c.293C>T MANE Select | NP_004919.1:p.Pro98Leu | |
| NM_001271440.2:c.293C>T | NP_001258369.1:p.Pro98Leu | |
| NM_001271441.2:c.293C>T | NP_001258370.1:p.Pro98Leu |