Linked Data
ClinVar Variation Id:
544352
ClinVar RCV Id:
RCV000655472
dbSNP Id:
rs753956705
ExAC:
1:16052008 G / A
gnomAD v2:
1-16052008-G-A
gnomAD v3:
1-15725513-G-A
gnomAD v4:
1-15725513-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15725513G>A , CM000663.2:g.15725513G>A | GRCh38 |
| NC_000001.10:g.16052008G>A , CM000663.1:g.16052008G>A | GRCh37 |
| NC_000001.9:g.15924595G>A | NCBI36 |
| NG_053033.1:g.49008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375799.8:c.909G>A MANE Select | ENSP00000364956.3:p.Pro303= | |
| ENST00000642363.1:c.909G>A | ENSP00000494591.1:p.Pro303= | |
| ENST00000375793.2:c.849G>A | ENSP00000364950.2:p.Pro283= | |
| ENST00000375799.7:c.909G>A | ENSP00000364956.3:p.Pro303= | |
| NM_015164.2:c.909G>A | NP_055979.2:p.Pro303= | |
| XM_005245790.2:c.849G>A | XP_005245847.1:p.Pro283= | |
| XM_005245791.3:c.300G>A | XP_005245848.1:p.Pro100= | |
| XR_946590.1:n.1201G>A | ||
| NM_015164.3:c.909G>A | NP_055979.2:p.Pro303= | |
| XM_005245790.4:c.849G>A | XP_005245847.1:p.Pro283= | |
| XM_005245791.4:c.300G>A | XP_005245848.1:p.Pro100= | |
| XM_017000757.1:c.948G>A | XP_016856246.1:p.Pro316= | |
| XM_017000758.1:c.888G>A | XP_016856247.1:p.Pro296= | |
| NM_015164.4:c.909G>A MANE Select | NP_055979.2:p.Pro303= |