Linked Data
ClinVar Variation Id:
885242
dbSNP Id:
rs146810840
ExAC:
15:43023447 G / A
gnomAD v2:
15-43023447-G-A
gnomAD v3:
15-42731249-G-A
gnomAD v4:
15-42731249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42731249G>A , CM000677.2:g.42731249G>A | GRCh38 |
| NC_000015.9:g.43023447G>A , CM000677.1:g.43023447G>A | GRCh37 |
| NC_000015.8:g.40810739G>A | NCBI36 |
| NG_012491.1:g.10971C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356231.4:c.1822C>T MANE Select | ENSP00000348564.3:p.Pro608Ser | |
| ENST00000643434.1:c.*1000C>T | ENSP00000494699.1:n.*1000C>T | |
| ENST00000356231.3:c.1822C>T | ENSP00000348564.3:p.Pro608Ser | |
| NM_138477.2:c.1822C>T | NP_612486.2:p.Pro608Ser | |
| XM_005254176.3:c.1825C>T | XP_005254233.1:p.Pro609Ser | |
| XM_011521270.1:c.1849C>T | XP_011519572.1:p.Pro617Ser | |
| XM_011521271.1:c.1846C>T | XP_011519573.1:p.Pro616Ser | |
| XM_011521272.1:c.1849C>T | XP_011519574.1:p.Pro617Ser | |
| XM_011521273.1:c.1849C>T | XP_011519575.1:p.Pro617Ser | |
| XM_011521274.1:c.814C>T | XP_011519576.1:p.Pro272Ser | |
| XM_011521275.1:c.1066C>T | XP_011519577.1:p.Pro356Ser | |
| XR_931757.1:n.1860C>T | ||
| NM_138477.4:c.1822C>T MANE Select | NP_612486.2:p.Pro608Ser | |
| XM_005254176.5:c.1825C>T | XP_005254233.1:p.Pro609Ser | |
| XM_011521270.2:c.1849C>T | XP_011519572.1:p.Pro617Ser | |
| XM_011521271.2:c.1846C>T | XP_011519573.1:p.Pro616Ser | |
| XM_011521274.2:c.814C>T | XP_011519576.1:p.Pro272Ser | |
| XR_001751104.1:n.1879C>T | ||
| XR_001751105.1:n.1879C>T | ||
| XR_931757.2:n.1880C>T |