Linked Data
dbSNP Id:
rs937496181
gnomAD v2:
15-44961559-G-T
gnomAD v3:
15-44669361-G-T
gnomAD v4:
15-44669361-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44669361G>T , CM000677.2:g.44669361G>T | GRCh38 |
| NC_000015.9:g.44961559G>T , CM000677.1:g.44961559G>T | GRCh37 |
| NC_000015.8:g.42748851G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682850.1:c.983C>A MANE Select | ENSP00000508024.1:p.Pro328Gln | |
| ENST00000434130.6:c.983C>A | ENSP00000416673.1:p.Pro328Gln | |
| ENST00000434130.5:c.983C>A | ENSP00000416673.1:p.Pro328Gln | |
| ENST00000560775.5:c.983C>A | ENSP00000453915.1:p.Pro328Gln | |
| ENST00000560780.1:c.416C>A | ENSP00000453695.1:p.Pro139Gln | |
| NM_001145112.1:c.983C>A | NP_001138584.1:p.Pro328Gln | |
| XM_005254224.2:c.983C>A | XP_005254281.1:p.Pro328Gln | |
| XM_011521336.1:c.983C>A | XP_011519638.1:p.Pro328Gln | |
| XM_011521337.1:c.974C>A | XP_011519639.1:p.Pro325Gln | |
| XM_011521338.1:c.983C>A | XP_011519640.1:p.Pro328Gln | |
| XM_011521339.1:c.983C>A | XP_011519641.1:p.Pro328Gln | |
| XM_011521340.1:c.983C>A | XP_011519642.1:p.Pro328Gln | |
| XM_011521341.1:c.983C>A | XP_011519643.1:p.Pro328Gln | |
| XM_011521342.1:c.761C>A | XP_011519644.1:p.Pro254Gln | |
| XM_011521343.1:c.731C>A | XP_011519645.1:p.Pro244Gln | |
| XM_011521344.1:c.731C>A | XP_011519646.1:p.Pro244Gln | |
| XM_011521345.1:c.722C>A | XP_011519647.1:p.Pro241Gln | |
| XM_011521346.1:c.548C>A | XP_011519648.1:p.Pro183Gln | |
| XM_011521347.1:c.416C>A | XP_011519649.1:p.Pro139Gln | |
| XM_011521348.1:c.416C>A | XP_011519650.1:p.Pro139Gln | |
| NM_001330283.1:c.416C>A | NP_001317212.1:p.Pro139Gln | |
| XM_011521336.2:c.1097C>A | XP_011519638.2:p.Pro366Gln | |
| XM_011521337.2:c.1088C>A | XP_011519639.2:p.Pro363Gln | |
| XM_011521338.3:c.983C>A | XP_011519640.1:p.Pro328Gln | |
| XM_011521339.3:c.983C>A | XP_011519641.1:p.Pro328Gln | |
| XM_011521340.3:c.983C>A | XP_011519642.1:p.Pro328Gln | |
| XM_011521342.2:c.761C>A | XP_011519644.1:p.Pro254Gln | |
| XM_011521343.3:c.731C>A | XP_011519645.1:p.Pro244Gln | |
| XM_011521344.3:c.731C>A | XP_011519646.1:p.Pro244Gln | |
| XM_011521345.3:c.722C>A | XP_011519647.1:p.Pro241Gln | |
| XM_011521346.2:c.662C>A | XP_011519648.2:p.Pro221Gln | |
| XM_017022000.2:c.1097C>A | XP_016877489.1:p.Pro366Gln | |
| XM_017022001.2:c.722C>A | XP_016877490.1:p.Pro241Gln | |
| NM_001145112.2:c.983C>A | NP_001138584.1:p.Pro328Gln | |
| NM_001330283.2:c.416C>A | NP_001317212.1:p.Pro139Gln | |
| NM_001387260.1:c.890C>A | NP_001374189.1:p.Pro297Gln | |
| NM_001387261.1:c.983C>A | NP_001374190.1:p.Pro328Gln | |
| NM_001387262.1:c.983C>A | NP_001374191.1:p.Pro328Gln | |
| NM_001387263.1:c.983C>A MANE Select | NP_001374192.1:p.Pro328Gln | |
| NM_001387264.1:c.890C>A | NP_001374193.1:p.Pro297Gln |