Linked Data
ClinVar Variation Id:
1386076
ClinVar RCV Id:
RCV001889154
dbSNP Id:
rs777588420
ExAC:
17:7592327 C / G
gnomAD v2:
17-7592327-C-G
gnomAD v4:
17-7689009-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7689009C>G , CM000679.2:g.7689009C>G | GRCh38 |
| NC_000017.10:g.7592327C>G , CM000679.1:g.7592327C>G | GRCh37 |
| NC_000017.9:g.7533052C>G | NCBI36 |
| NG_017013.2:g.3542G>C , LRG_321:g.3542G>C | |
| NG_028245.1:g.7939C>G , LRG_375:g.7939C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698742.1:c.361C>G | ENSP00000513904.1:p.Pro121Ala | |
| ENST00000698743.1:c.361C>G | ENSP00000513905.1:p.Pro121Ala | |
| ENST00000698744.1:c.361C>G | ENSP00000513906.1:p.Pro121Ala | |
| ENST00000698745.1:c.361C>G | ENSP00000513907.1:p.Pro121Ala | |
| ENST00000698746.1:c.361C>G | ENSP00000513908.1:p.Pro121Ala | |
| ENST00000396463.7:c.361C>G MANE Select | ENSP00000379727.3:p.Pro121Ala | |
| ENST00000316024.9:c.361C>G | ENSP00000324203.5:p.Pro121Ala | |
| ENST00000396463.6:c.361C>G | ENSP00000379727.2:p.Pro121Ala | |
| ENST00000431639.6:c.361C>G | ENSP00000397219.2:p.Pro121Ala | |
| ENST00000457584.6:c.361C>G | ENSP00000411061.2:p.Pro121Ala | |
| ENST00000467699.5:n.447C>G | ||
| ENST00000498311.5:c.361C>G | ENSP00000432991.1:p.Pro121Ala | |
| ENST00000534050.5:c.361C>G | ENSP00000434999.1:p.Pro121Ala | |
| NM_001143990.1:c.361C>G | NP_001137462.1:p.Pro121Ala | |
| NM_001143991.1:c.361C>G | NP_001137463.1:p.Pro121Ala | |
| NM_001143992.1:c.361C>G | NP_001137464.1:p.Pro121Ala | |
| NM_018081.2:c.361C>G , LRG_375t1:c.361C>G | NP_060551.2:p.Pro121Ala | |
| XM_011523952.2:c.-272C>G | XP_011522254.1:n.-272C>G | |
| XM_024450824.1:c.-1715C>G | XP_024306592.1:n.-1715C>G | |
| XM_024450825.1:c.361C>G | XP_024306593.1:p.Pro121Ala | |
| XR_001752551.2:n.606C>G | ||
| NM_001143991.2:c.361C>G | NP_001137463.1:p.Pro121Ala | |
| NM_001143992.2:c.361C>G MANE Select | NP_001137464.1:p.Pro121Ala | |
| NM_001143990.2:c.361C>G | NP_001137462.1:p.Pro121Ala |