Linked Data
ClinVar Variation Id:
599336
ClinVar RCV Id:
RCV000735974
dbSNP Id:
rs1569172827
gnomAD v4:
22-38566727-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38566727C>T , CM000684.2:g.38566727C>T | GRCh38 |
| NC_000022.10:g.38962732C>T , CM000684.1:g.38962732C>T | GRCh37 |
| NC_000022.9:g.37292678C>T | NCBI36 |
| NG_017203.1:g.8458G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216024.7:c.106G>A MANE Select | ENSP00000216024.2:p.Asp36Asn | |
| ENST00000216024.6:c.106G>A | ENSP00000216024.2:p.Asp36Asn | |
| ENST00000415483.1:c.106G>A | ENSP00000410808.1:p.Asp36Asn | |
| ENST00000428462.6:c.106G>A | ENSP00000412703.2:p.Asp36Asn | |
| ENST00000439567.5:c.106G>A | ENSP00000391385.1:p.Asp36Asn | |
| ENST00000478820.1:n.281G>A | ||
| ENST00000616615.4:c.106G>A | ENSP00000477737.1:p.Asp36Asn | |
| NM_001278208.1:c.106G>A | NP_001265137.1:p.Asp36Asn | |
| NM_007068.3:c.106G>A | NP_008999.2:p.Asp36Asn | |
| XM_006724112.2:c.106G>A | XP_006724175.1:p.Asp36Asn | |
| XM_011529834.1:c.106G>A | XP_011528136.1:p.Asp36Asn | |
| XM_011529835.1:c.106G>A | XP_011528137.1:p.Asp36Asn | |
| XM_011529836.1:c.106G>A | XP_011528138.1:p.Asp36Asn | |
| XM_011529837.1:c.106G>A | XP_011528139.1:p.Asp36Asn | |
| XM_011529838.1:c.106G>A | XP_011528140.1:p.Asp36Asn | |
| NM_001363017.1:c.106G>A | NP_001349946.1:p.Asp36Asn | |
| XM_011529834.2:c.106G>A | XP_011528136.1:p.Asp36Asn | |
| XM_011529835.2:c.106G>A | XP_011528137.1:p.Asp36Asn | |
| XM_011529837.2:c.106G>A | XP_011528139.1:p.Asp36Asn | |
| XM_017028542.2:c.106G>A | XP_016884031.1:p.Asp36Asn | |
| NM_007068.4:c.106G>A MANE Select | NP_008999.2:p.Asp36Asn | |
| NM_001363017.2:c.106G>A | NP_001349946.1:p.Asp36Asn | |
| NM_001278208.2:c.106G>A | NP_001265137.1:p.Asp36Asn |