Linked Data
dbSNP Id:
rs754299029
ExAC:
17:8025080 G / C
gnomAD v2:
17-8025080-G-C
gnomAD v3:
17-8121762-G-C
gnomAD v4:
17-8121762-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121762G>C , CM000679.2:g.8121762G>C | GRCh38 |
| NC_000017.10:g.8025080G>C , CM000679.1:g.8025080G>C | GRCh37 |
| NC_000017.9:g.7965805G>C | NCBI36 |
| NG_015807.1:g.2155C>G | |
| NG_015816.1:g.7331C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.502C>G MANE Select | ENSP00000446205.2:p.Pro168Ala | |
| ENST00000317814.8:c.487C>G | ENSP00000314774.4:p.Pro163Ala | |
| ENST00000541682.6:c.502C>G | ENSP00000446205.2:p.Pro168Ala | |
| NM_001165967.1:c.502C>G | NP_001159439.1:p.Pro168Ala | |
| NM_032580.3:c.487C>G | NP_115969.2:p.Pro163Ala | |
| XM_011524038.1:c.607C>G | XP_011522340.1:p.Pro203Ala | |
| XM_011524039.1:c.598C>G | XP_011522341.1:p.Pro200Ala | |
| XM_011524040.1:c.598C>G | XP_011522342.1:p.Pro200Ala | |
| XM_011524041.1:c.589C>G | XP_011522343.1:p.Pro197Ala | |
| XM_011524042.1:c.460C>G | XP_011522344.1:p.Pro154Ala | |
| XR_934203.1:n.69+1948G>C | ||
| XM_017025232.1:c.607C>G | XP_016880721.1:p.Pro203Ala | |
| XM_024451007.1:c.607C>G | XP_024306775.1:p.Pro203Ala | |
| NM_001165967.2:c.502C>G MANE Select | NP_001159439.1:p.Pro168Ala | |
| NM_032580.4:c.487C>G | NP_115969.2:p.Pro163Ala |