Linked Data
ClinVar Variation Id:
631141
ClinVar RCV Id:
RCV000777294
dbSNP Id:
rs1559584737
gnomAD v4:
3-52402407-G-A
MyVariant Identifiers:
chr3:g.52436423G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52402407G>A , CM000665.2:g.52402407G>A | GRCh38 |
| NC_000003.11:g.52436423G>A , CM000665.1:g.52436423G>A | GRCh37 |
| NC_000003.10:g.52411463G>A | NCBI36 |
| NG_031859.1:g.12587C>T , LRG_529:g.12587C>T | |
| NG_052911.1:g.91089G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.2071C>T MANE Select | ENSP00000417132.1:p.Leu691= | |
| ENST00000296288.9:c.2017C>T | ENSP00000296288.5:p.Leu673= | |
| ENST00000460680.5:c.2071C>T | ENSP00000417132.1:p.Leu691= | |
| ENST00000466093.1:n.744C>T | ||
| ENST00000469613.5:c.270C>T | ||
| ENST00000478368.1:c.643C>T | ENSP00000420647.1:p.Leu215= | |
| NM_004656.3:c.2071C>T | NP_004647.1:p.Leu691= | |
| XM_011534149.1:c.2140C>T | XP_011532451.1:p.Leu714= | |
| XM_011534150.1:c.2095C>T | XP_011532452.1:p.Leu699= | |
| XM_011534151.1:c.2086C>T | XP_011532453.1:p.Leu696= | |
| XM_011534152.1:c.2026C>T | XP_011532454.1:p.Leu676= | |
| XM_011534149.3:c.2140C>T | XP_011532451.1:p.Leu714= | |
| XM_011534150.3:c.2095C>T | XP_011532452.1:p.Leu699= | |
| XM_011534151.3:c.2086C>T | XP_011532453.1:p.Leu696= | |
| XM_011534152.2:c.2026C>T | XP_011532454.1:p.Leu676= | |
| XM_017007303.2:c.2017C>T | XP_016862792.1:p.Leu673= | |
| NM_004656.4:c.2071C>T MANE Select | NP_004647.1:p.Leu691= |