Linked Data
ClinVar Variation Id:
921722
ClinVar RCV Id:
RCV001181278
dbSNP Id:
rs1705020958
gnomAD v4:
3-52403166-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52403166G>A , CM000665.2:g.52403166G>A | GRCh38 |
| NC_000003.11:g.52437182G>A , CM000665.1:g.52437182G>A | GRCh37 |
| NC_000003.10:g.52412222G>A | NCBI36 |
| NG_031859.1:g.11828C>T , LRG_529:g.11828C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1862C>T MANE Select | ENSP00000417132.1:p.Pro621Leu | |
| ENST00000296288.9:c.1808C>T | ENSP00000296288.5:p.Pro603Leu | |
| ENST00000460680.5:c.1862C>T | ENSP00000417132.1:p.Pro621Leu | |
| ENST00000466093.1:n.269C>T | ||
| ENST00000469613.5:c.120-325C>T | ||
| ENST00000478368.1:c.365C>T | ENSP00000420647.1:p.Pro122Leu | |
| NM_004656.3:c.1862C>T | NP_004647.1:p.Pro621Leu | |
| XM_011534149.1:c.1862C>T | XP_011532451.1:p.Pro621Leu | |
| XM_011534150.1:c.1845+17C>T | XP_011532452.1:n.1845+17C>T | |
| XM_011534151.1:c.1808C>T | XP_011532453.1:p.Pro603Leu | |
| XM_011534152.1:c.1845+17C>T | XP_011532454.1:n.1845+17C>T | |
| XM_011534149.3:c.1862C>T | XP_011532451.1:p.Pro621Leu | |
| XM_011534150.3:c.1845+17C>T | XP_011532452.1:n.1845+17C>T | |
| XM_011534151.3:c.1808C>T | XP_011532453.1:p.Pro603Leu | |
| XM_011534152.2:c.1845+17C>T | XP_011532454.1:n.1845+17C>T | |
| XM_017007303.2:c.1808C>T | XP_016862792.1:p.Pro603Leu | |
| NM_004656.4:c.1862C>T MANE Select | NP_004647.1:p.Pro621Leu |