Linked Data
dbSNP Id:
rs587641811
gnomAD v2:
11-111887513-C-A
gnomAD v3:
11-112016789-C-A
gnomAD v4:
11-112016789-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112016789C>A , CM000673.2:g.112016789C>A | GRCh38 |
| NC_000011.9:g.111887513C>A , CM000673.1:g.111887513C>A | GRCh37 |
| NC_000011.8:g.111392723C>A | NCBI36 |
| NG_033127.1:g.94647C>A | |
| NG_033127.2:g.94646C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440460.7:c.1855C>A MANE Select | ENSP00000394352.3:p.Pro619Thr | |
| ENST00000440460.6:c.1855C>A | ENSP00000394352.3:p.Pro619Thr | |
| ENST00000526500.5:n.851C>A | ||
| ENST00000615255.1:c.1222C>A | ENSP00000480808.1:p.Pro408Thr | |
| ENST00000618522.4:n.1208C>A | ||
| NM_001037954.3:c.1855C>A | NP_001033043.1:p.Pro619Thr | |
| NM_033425.4:c.1222C>A | NP_219493.1:p.Pro408Thr | |
| XM_005277726.3:c.1855C>A | XP_005277783.1:p.Pro619Thr | |
| XM_005277727.3:c.1852C>A | XP_005277784.1:p.Pro618Thr | |
| XM_005277728.3:c.1222C>A | XP_005277785.1:p.Pro408Thr | |
| XM_011543045.1:c.973C>A | XP_011541347.1:p.Pro325Thr | |
| XM_011543046.1:c.967C>A | XP_011541348.1:p.Pro323Thr | |
| XM_017018466.2:c.1852C>A | XP_016873955.1:p.Pro618Thr | |
| XM_017018467.1:c.1852C>A | XP_016873956.1:p.Pro618Thr | |
| XM_017018468.1:c.973C>A | XP_016873957.1:p.Pro325Thr | |
| XM_017018469.1:c.967C>A | XP_016873958.1:p.Pro323Thr | |
| XM_024448742.1:c.1747C>A | XP_024304510.1:p.Pro583Thr | |
| XM_024448743.1:c.1744C>A | XP_024304511.1:p.Pro582Thr | |
| NM_001037954.4:c.1855C>A MANE Select | NP_001033043.1:p.Pro619Thr | |
| NM_033425.5:c.1222C>A | NP_219493.1:p.Pro408Thr |