Linked Data
ClinVar Variation Id:
7917
dbSNP Id:
rs121434480
ExAC:
4:175429850 C / G
gnomAD v2:
4-175429850-C-G
gnomAD v3:
4-174508699-C-G
gnomAD v4:
4-174508699-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.174508699C>G , CM000666.2:g.174508699C>G | GRCh38 |
| NC_000004.11:g.175429850C>G , CM000666.1:g.175429850C>G | GRCh37 |
| NC_000004.10:g.175666425C>G | NCBI36 |
| NG_011689.1:g.18943G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296522.11:c.418G>C MANE Select | ENSP00000296522.6:p.Ala140Pro | |
| ENST00000296521.11:c.418G>C | ENSP00000296521.7:p.Ala140Pro | |
| ENST00000296522.10:c.418G>C | ENSP00000296522.6:p.Ala140Pro | |
| ENST00000422112.6:c.218-13075G>C | ENSP00000398720.2:n.218-13075G>C | |
| ENST00000504433.1:c.418G>C | ENSP00000420892.1:p.Ala140Pro | |
| ENST00000506910.5:c.55G>C | ENSP00000423066.1:p.Ala19Pro | |
| ENST00000508330.5:c.*47G>C | ENSP00000425741.1:n.*47G>C | |
| ENST00000510835.5:c.*180G>C | ENSP00000427699.1:n.*180G>C | |
| ENST00000510901.5:c.55G>C | ENSP00000422418.1:p.Ala19Pro | |
| ENST00000512410.1:n.399G>C | ||
| ENST00000514584.5:c.55G>C | ENSP00000423110.1:p.Ala19Pro | |
| ENST00000541923.5:c.55G>C | ENSP00000438017.1:p.Ala19Pro | |
| ENST00000542498.5:c.418G>C | ENSP00000443644.1:p.Ala140Pro | |
| NM_000860.5:c.418G>C | NP_000851.2:p.Ala140Pro | |
| NM_001145816.2:c.418G>C | NP_001139288.1:p.Ala140Pro | |
| NM_001256301.1:c.55G>C | NP_001243230.1:p.Ala19Pro | |
| NM_001256305.1:c.418G>C | NP_001243234.1:p.Ala140Pro | |
| NM_001256306.1:c.218-13075G>C | NP_001243235.1:n.218-13075G>C | |
| NM_001256307.1:c.55G>C | NP_001243236.1:p.Ala19Pro | |
| XM_011531907.1:c.418G>C | XP_011530209.1:p.Ala140Pro | |
| XR_938728.1:n.860G>C | ||
| NM_001363574.1:c.418G>C | NP_001350503.1:p.Ala140Pro | |
| XR_938728.2:n.455G>C | ||
| NM_000860.6:c.418G>C MANE Select | NP_000851.2:p.Ala140Pro | |
| NM_001363574.2:c.418G>C | NP_001350503.1:p.Ala140Pro | |
| NM_001145816.3:c.418G>C | NP_001139288.1:p.Ala140Pro | |
| NM_001256305.2:c.418G>C | NP_001243234.1:p.Ala140Pro | |
| NM_001256306.2:c.218-13075G>C | NP_001243235.1:n.218-13075G>C | |
| NM_001256307.2:c.55G>C | NP_001243236.1:p.Ala19Pro |