Linked Data
ClinVar Variation Id:
451342
dbSNP Id:
rs61747068
ExAC:
2:27680746 G / C
gnomAD v2:
2-27680746-G-C
gnomAD v3:
2-27457879-G-C
gnomAD v4:
2-27457879-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27457879G>C , CM000664.2:g.27457879G>C | GRCh38 |
| NC_000002.11:g.27680746G>C , CM000664.1:g.27680746G>C | GRCh37 |
| NC_000002.10:g.27534250G>C | NCBI36 |
| NG_034068.1:g.36933C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.3073C>G MANE Select | ENSP00000260570.3:p.Pro1025Ala | |
| ENST00000674701.1:c.*2395C>G | ENSP00000502275.1:n.*2395C>G | |
| ENST00000674824.1:c.*1088C>G | ENSP00000501824.1:n.*1088C>G | |
| ENST00000674932.1:c.*3328C>G | ENSP00000501967.1:n.*3328C>G | |
| ENST00000675410.1:c.*753C>G | ENSP00000502030.1:n.*753C>G | |
| ENST00000675690.1:c.3007C>G | ENSP00000502283.1:p.Pro1003Ala | |
| ENST00000676119.1:c.*2363C>G | ENSP00000501701.1:n.*2363C>G | |
| ENST00000260570.7:c.3073C>G | ENSP00000260570.3:p.Pro1025Ala | |
| ENST00000507184.5:n.3354C>G | ||
| NM_015662.2:c.3073C>G | NP_056477.1:p.Pro1025Ala | |
| XM_005264254.1:c.3007C>G | XP_005264311.1:p.Pro1003Ala | |
| XM_006711986.2:c.3010C>G | XP_006712049.1:p.Pro1004Ala | |
| XM_006711987.1:c.3073C>G | XP_006712050.1:p.Pro1025Ala | |
| XM_011532757.1:c.2392C>G | XP_011531059.1:p.Pro798Ala | |
| XM_011532758.1:c.3073C>G | XP_011531060.1:p.Pro1025Ala | |
| XM_011532759.1:c.1513C>G | XP_011531061.1:p.Pro505Ala | |
| XM_011532760.1:c.1138C>G | XP_011531062.1:p.Pro380Ala | |
| XM_006711986.3:c.3010C>G | XP_006712049.1:p.Pro1004Ala | |
| XM_011532757.2:c.2392C>G | XP_011531059.1:p.Pro798Ala | |
| XM_011532759.2:c.1513C>G | XP_011531061.1:p.Pro505Ala | |
| XM_011532760.2:c.1138C>G | XP_011531062.1:p.Pro380Ala | |
| XM_017003790.1:c.2944C>G | XP_016859279.1:p.Pro982Ala | |
| XM_017003791.1:c.2392C>G | XP_016859280.1:p.Pro798Ala | |
| XM_017003792.1:c.3073C>G | XP_016859281.1:p.Pro1025Ala | |
| XM_017003793.1:c.1210C>G | XP_016859282.1:p.Pro404Ala | |
| XM_017003794.1:c.1210C>G | XP_016859283.1:p.Pro404Ala | |
| XM_017003795.1:c.1006C>G | XP_016859284.1:p.Pro336Ala | |
| XR_001738698.1:n.3128C>G | ||
| NM_015662.3:c.3073C>G MANE Select | NP_056477.1:p.Pro1025Ala |