Linked Data
ClinVar Variation Id:
589143
dbSNP Id:
rs772009624
ExAC:
5:36958285 C / G
gnomAD v2:
5-36958285-C-G
gnomAD v4:
5-36958183-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36958183C>G , CM000667.2:g.36958183C>G | GRCh38 |
| NC_000005.9:g.36958285C>G , CM000667.1:g.36958285C>G | GRCh37 |
| NC_000005.8:g.36994042C>G | NCBI36 |
| NG_006987.1:g.86301C>G | |
| NG_006987.2:g.86301C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.310C>G MANE Select | ENSP00000282516.8:p.Pro104Ala | |
| ENST00000652901.1:c.310C>G | ENSP00000499536.1:p.Pro104Ala | |
| ENST00000282516.12:c.310C>G | ENSP00000282516.8:p.Pro104Ala | |
| ENST00000448238.2:c.310C>G | ENSP00000406266.2:p.Pro104Ala | |
| ENST00000505998.5:n.289C>G | ||
| ENST00000621733.1:c.-1+81161C>G | ENSP00000480694.1:n.-1+81161C>G | |
| NM_015384.4:c.310C>G | NP_056199.2:p.Pro104Ala | |
| NM_133433.3:c.310C>G | NP_597677.2:p.Pro104Ala | |
| XM_005248280.2:c.310C>G | XP_005248337.1:p.Pro104Ala | |
| XM_006714467.2:c.310C>G | XP_006714530.1:p.Pro104Ala | |
| XM_006714468.1:c.310C>G | XP_006714531.1:p.Pro104Ala | |
| XM_011514014.1:c.310C>G | XP_011512316.1:p.Pro104Ala | |
| XM_011514015.1:c.310C>G | XP_011512317.1:p.Pro104Ala | |
| XM_005248280.3:c.310C>G | XP_005248337.1:p.Pro104Ala | |
| XM_006714468.2:c.310C>G | XP_006714531.1:p.Pro104Ala | |
| XM_017009329.1:c.310C>G | XP_016864818.1:p.Pro104Ala | |
| XM_017009331.1:c.310C>G | XP_016864820.1:p.Pro104Ala | |
| NM_133433.4:c.310C>G MANE Select | NP_597677.2:p.Pro104Ala | |
| NM_015384.5:c.310C>G | NP_056199.2:p.Pro104Ala |