Linked Data
ClinVar Variation Id:
1041988
ClinVar RCV Id:
RCV001345877
dbSNP Id:
rs774050685
ExAC:
7:66103951 C / G
gnomAD v2:
7-66103951-C-G
gnomAD v4:
7-66638964-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66638964C>G , CM000669.2:g.66638964C>G | GRCh38 |
| NC_000007.13:g.66103951C>G , CM000669.1:g.66103951C>G | GRCh37 |
| NC_000007.12:g.65741386C>G | NCBI36 |
| NG_028110.1:g.15084C>G | |
| NG_028110.2:g.15084C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.562C>G | ENSP00000275532.4:p.Pro188Ala | |
| ENST00000449064.6:c.505+35C>G | ||
| ENST00000503687.2:c.397+35C>G | ENSP00000421074.1:n.397+35C>G | |
| ENST00000638524.1:c.427C>G | ||
| ENST00000638540.1:c.406C>G | ||
| ENST00000639828.2:c.602C>G MANE Select | ENSP00000492240.1:p.Pro201Arg | |
| ENST00000639879.1:c.*465C>G | ENSP00000492161.1:n.*465C>G | |
| ENST00000640234.1:c.437+35C>G | ||
| ENST00000640385.1:c.602C>G | ENSP00000491193.1:p.Pro201Arg | |
| ENST00000640601.1:c.109C>G | ||
| ENST00000640851.1:c.567+35C>G | ENSP00000492577.1:n.567+35C>G | |
| ENST00000275532.7:c.602C>G | ENSP00000275532.3:p.Pro201Arg | |
| ENST00000443322.1:c.602C>G | ENSP00000411624.1:p.Pro201Arg | |
| ENST00000503687.1:c.397+35C>G | ENSP00000421074.1:n.397+35C>G | |
| NM_001167961.2:c.602C>G | NP_001161433.1:p.Pro201Arg | |
| NM_153033.4:c.602C>G | NP_694578.1:p.Pro201Arg | |
| NM_153033.5:c.602C>G MANE Select | NP_694578.1:p.Pro201Arg |