Linked Data
ClinVar Variation Id:
1946620
ClinVar RCV Id:
RCV002659043
dbSNP Id:
rs1281351397
gnomAD v2:
20-45188740-G-A
gnomAD v4:
20-46560101-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46560101G>A , CM000682.2:g.46560101G>A | GRCh38 |
| NC_000020.10:g.45188740G>A , CM000682.1:g.45188740G>A | GRCh37 |
| NC_000020.9:g.44622147G>A | NCBI36 |
| NG_047182.1:g.129385C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279027.9:c.1730C>T MANE Select | ENSP00000279027.4:p.Pro577Leu | |
| ENST00000279027.8:c.1730C>T | ENSP00000279027.4:p.Pro577Leu | |
| ENST00000290317.9:c.1589C>T | ENSP00000290317.5:p.Pro530Leu | |
| ENST00000413164.6:c.1580C>T | ENSP00000415852.2:p.Pro527Leu | |
| ENST00000472148.5:c.1484C>T | ENSP00000420177.1:p.Pro495Leu | |
| ENST00000495082.5:c.1589C>T | ENSP00000419621.1:p.Pro530Leu | |
| NM_001011554.2:c.1589C>T | NP_001011554.1:p.Pro530Leu | |
| NM_001193339.1:c.1580C>T | NP_001180268.1:p.Pro527Leu | |
| NM_001193340.1:c.1484C>T | NP_001180269.1:p.Pro495Leu | |
| NM_001193342.1:c.1436C>T | NP_001180271.1:p.Pro479Leu | |
| NM_022829.5:c.1730C>T | NP_073740.2:p.Pro577Leu | |
| NM_022829.6:c.1730C>T MANE Select | NP_073740.2:p.Pro577Leu | |
| NM_001011554.3:c.1589C>T | NP_001011554.1:p.Pro530Leu | |
| NM_001193339.2:c.1580C>T | NP_001180268.1:p.Pro527Leu | |
| NM_001193340.2:c.1484C>T | NP_001180269.1:p.Pro495Leu | |
| NM_001193342.2:c.1436C>T | NP_001180271.1:p.Pro479Leu |