Linked Data
ClinVar Variation Id:
579661
dbSNP Id:
rs916844425
gnomAD v2:
17-17122463-G-A
gnomAD v3:
17-17219149-G-A
gnomAD v4:
17-17219149-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17219149G>A , CM000679.2:g.17219149G>A | GRCh38 |
| NC_000017.10:g.17122463G>A , CM000679.1:g.17122463G>A | GRCh37 |
| NC_000017.9:g.17063188G>A | NCBI36 |
| NG_008001.2:g.23040C>T , LRG_325:g.23040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285071.9:c.932C>T MANE Select | ENSP00000285071.4:p.Pro311Leu | |
| ENST00000285071.8:c.932C>T | ENSP00000285071.4:p.Pro311Leu | |
| ENST00000427497.3:c.149-95C>T | ENSP00000394249.3:n.149-95C>T | |
| NM_144997.5:c.932C>T , LRG_325t1:c.932C>T | NP_659434.2:p.Pro311Leu | |
| XM_011523714.1:c.986C>T | XP_011522016.1:p.Pro329Leu | |
| XM_011523715.1:c.986C>T | XP_011522017.1:p.Pro329Leu | |
| XM_011523716.1:c.986C>T | XP_011522018.1:p.Pro329Leu | |
| XM_011523717.1:c.986C>T | XP_011522019.1:p.Pro329Leu | |
| XM_011523718.1:c.986C>T | XP_011522020.1:p.Pro329Leu | |
| XM_011523719.1:c.986C>T | XP_011522021.1:p.Pro329Leu | |
| XM_011523720.1:c.710C>T | XP_011522022.1:p.Pro237Leu | |
| XM_011523721.1:c.986C>T | XP_011522023.1:p.Pro329Leu | |
| XR_934007.1:n.2326C>T | ||
| NM_001353229.1:c.986C>T | NP_001340158.1:p.Pro329Leu | |
| NM_001353230.1:c.932C>T | NP_001340159.1:p.Pro311Leu | |
| NM_001353231.1:c.932C>T | NP_001340160.1:p.Pro311Leu | |
| NM_144997.6:c.932C>T | NP_659434.2:p.Pro311Leu | |
| XM_011523714.3:c.986C>T | XP_011522016.1:p.Pro329Leu | |
| XM_011523718.3:c.986C>T | XP_011522020.1:p.Pro329Leu | |
| XM_011523719.3:c.986C>T | XP_011522021.1:p.Pro329Leu | |
| XM_011523721.3:c.986C>T | XP_011522023.1:p.Pro329Leu | |
| XM_017024305.2:c.986C>T | XP_016879794.1:p.Pro329Leu | |
| XM_017024308.1:c.932C>T | XP_016879797.1:p.Pro311Leu | |
| XM_017024309.2:c.710C>T | XP_016879798.1:p.Pro237Leu | |
| XM_024450635.1:c.986C>T | XP_024306403.1:p.Pro329Leu | |
| XR_001752445.2:n.1490C>T | ||
| NM_144997.7:c.932C>T MANE Select | NP_659434.2:p.Pro311Leu | |
| NM_001353229.2:c.986C>T | NP_001340158.1:p.Pro329Leu | |
| NM_001353230.2:c.932C>T | NP_001340159.1:p.Pro311Leu | |
| NM_001353231.2:c.932C>T | NP_001340160.1:p.Pro311Leu |