Linked Data
ClinVar Variation Id:
234727
dbSNP Id:
rs760044422
ExAC:
12:110226501 G / C
gnomAD v2:
12-110226501-G-C
gnomAD v3:
12-109788696-G-C
gnomAD v4:
12-109788696-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109788696G>C , CM000674.2:g.109788696G>C | GRCh38 |
| NC_000012.11:g.110226501G>C , CM000674.1:g.110226501G>C | GRCh37 |
| NC_000012.10:g.108710884G>C | NCBI36 |
| NG_017090.1:g.49712C>G , LRG_372:g.49712C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.1912C>G MANE Select | ENSP00000261740.2:p.Pro638Ala | |
| ENST00000418703.7:c.1912C>G | ENSP00000406191.2:p.Pro638Ala | |
| ENST00000674908.1:c.*999C>G | ENSP00000502012.1:n.*999C>G | |
| ENST00000675533.1:n.1943C>G | ||
| ENST00000675670.1:c.1912C>G | ENSP00000502135.1:p.Pro638Ala | |
| ENST00000676376.1:n.1969C>G | ||
| ENST00000261740.6:c.1912C>G | ENSP00000261740.2:p.Pro638Ala | |
| ENST00000418703.6:c.1912C>G | ENSP00000406191.2:p.Pro638Ala | |
| ENST00000536838.1:c.1810C>G | ENSP00000444336.1:p.Pro604Ala | |
| ENST00000537083.5:c.1732C>G | ENSP00000442738.1:p.Pro578Ala | |
| ENST00000538125.5:c.*295C>G | ENSP00000437449.1:n.*295C>G | |
| ENST00000541794.5:c.1771C>G | ENSP00000442167.1:p.Pro591Ala | |
| ENST00000544971.5:c.1591C>G | ENSP00000443611.1:p.Pro531Ala | |
| NM_001177428.1:c.1771C>G | NP_001170899.1:p.Pro591Ala | |
| NM_001177431.1:c.1810C>G | NP_001170902.1:p.Pro604Ala | |
| NM_001177433.1:c.1591C>G | NP_001170904.1:p.Pro531Ala | |
| NM_021625.4:c.1912C>G , LRG_372t1:c.1912C>G | NP_067638.3:p.Pro638Ala | |
| NM_147204.2:c.1732C>G | NP_671737.1:p.Pro578Ala | |
| XM_005253918.1:c.1912C>G | XP_005253975.1:p.Pro638Ala | |
| XM_011538630.1:c.1912C>G | XP_011536932.1:p.Pro638Ala | |
| XM_011538631.1:c.1771C>G | XP_011536933.1:p.Pro591Ala | |
| XM_011538632.1:c.1732C>G | XP_011536934.1:p.Pro578Ala | |
| XM_011538633.1:c.1591C>G | XP_011536935.1:p.Pro531Ala | |
| XM_011538634.1:c.1912C>G | XP_011536936.1:p.Pro638Ala | |
| XM_011538635.1:c.*3C>G | XP_011536937.1:n.*3C>G | |
| XM_011538630.2:c.2065C>G | XP_011536932.2:p.Pro689Ala | |
| XM_011538631.2:c.1924C>G | XP_011536933.2:p.Pro642Ala | |
| XM_011538632.2:c.1885C>G | XP_011536934.2:p.Pro629Ala | |
| XM_011538633.2:c.1744C>G | XP_011536935.2:p.Pro582Ala | |
| XM_011538634.2:c.2065C>G | XP_011536936.2:p.Pro689Ala | |
| XM_011538635.2:c.*3C>G | XP_011536937.1:n.*3C>G | |
| XM_017019774.1:c.1912C>G | XP_016875263.1:p.Pro638Ala | |
| NM_021625.5:c.1912C>G MANE Select | NP_067638.3:p.Pro638Ala |