Linked Data
ClinVar Variation Id:
2511247
ClinVar RCV Id:
RCV004282333
dbSNP Id:
rs778915780
ExAC:
4:15713477 C / G
gnomAD v2:
4-15713477-C-G
gnomAD v3:
4-15711854-C-G
gnomAD v4:
4-15711854-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15711854C>G , CM000666.2:g.15711854C>G | GRCh38 |
| NC_000004.11:g.15713477C>G , CM000666.1:g.15713477C>G | GRCh37 |
| NC_000004.10:g.15322575C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265016.9:c.499C>G MANE Select | ENSP00000265016.4:p.Pro167Ala | |
| ENST00000265016.8:c.499C>G | ENSP00000265016.4:p.Pro167Ala | |
| ENST00000382346.7:c.544C>G | ENSP00000371783.3:p.Pro182Ala | |
| ENST00000505785.5:c.186C>G | ||
| ENST00000514445.5:c.49C>G | ENSP00000420925.1:p.Pro17Ala | |
| NM_004334.2:c.499C>G | NP_004325.2:p.Pro167Ala | |
| XM_005248184.3:c.499C>G | XP_005248241.1:p.Pro167Ala | |
| XM_005248185.1:c.499C>G | XP_005248242.1:p.Pro167Ala | |
| XM_005248186.1:c.499C>G | XP_005248243.1:p.Pro167Ala | |
| XM_011513878.1:c.499C>G | XP_011512180.1:p.Pro167Ala | |
| XM_011513879.1:c.499C>G | XP_011512181.1:p.Pro167Ala | |
| XM_011513880.1:c.499C>G | XP_011512182.1:p.Pro167Ala | |
| XM_011513881.1:c.325C>G | XP_011512183.1:p.Pro109Ala | |
| XM_005248185.2:c.499C>G | XP_005248242.1:p.Pro167Ala | |
| XM_005248186.2:c.499C>G | XP_005248243.1:p.Pro167Ala | |
| XM_011513878.3:c.499C>G | XP_011512180.1:p.Pro167Ala | |
| XM_011513879.2:c.499C>G | XP_011512181.1:p.Pro167Ala | |
| XM_011513881.2:c.325C>G | XP_011512183.1:p.Pro109Ala | |
| XM_017008565.2:c.499C>G | XP_016864054.1:p.Pro167Ala | |
| XM_017008566.2:c.499C>G | XP_016864055.1:p.Pro167Ala | |
| NM_004334.3:c.499C>G MANE Select | NP_004325.2:p.Pro167Ala |