Linked Data
ClinVar Variation Id:
1069
ClinVar RCV Id:
RCV000001124
RCV000393725
RCV000689745
RCV001271279
RCV002482812
RCV003155007
RCV004528062
dbSNP Id:
rs121918198
ExAC:
16:53686756 T / G
gnomAD v2:
16-53686756-T-G
gnomAD v3:
16-53652844-T-G
gnomAD v4:
16-53652844-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53652844T>G , CM000678.2:g.53652844T>G | GRCh38 |
| NC_000016.9:g.53686756T>G , CM000678.1:g.53686756T>G | GRCh37 |
| NC_000016.8:g.52244257T>G | NCBI36 |
| NG_008991.2:g.56016A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262135.9:c.1843A>C | ENSP00000262135.4:p.Thr615Pro | |
| ENST00000565343.2:n.2267A>C | ||
| ENST00000621565.5:c.1843A>C | ENSP00000480698.1:p.Thr615Pro | |
| ENST00000647211.2:c.1843A>C MANE Select | ENSP00000493946.1:p.Thr615Pro | |
| ENST00000680193.1:c.1843A>C | ENSP00000506379.1:p.Thr615Pro | |
| ENST00000262135.8:c.1843A>C | ENSP00000262135.4:p.Thr615Pro | |
| ENST00000379925.7:c.1843A>C | ENSP00000369257.3:p.Thr615Pro | |
| ENST00000563746.5:c.1843A>C | ENSP00000457889.1:p.Thr615Pro | |
| ENST00000564374.5:c.1843A>C | ENSP00000456534.1:p.Thr615Pro | |
| ENST00000621565.4:c.1843A>C | ENSP00000480698.1:p.Thr615Pro | |
| NM_001127897.1:c.1843A>C | NP_001121369.1:p.Thr615Pro | |
| NM_001127897.2:c.1843A>C | NP_001121369.1:p.Thr615Pro | |
| NM_001308334.1:c.1843A>C | NP_001295263.1:p.Thr615Pro | |
| NM_015272.2:c.1843A>C | NP_056087.2:p.Thr615Pro | |
| NM_015272.3:c.1843A>C | NP_056087.2:p.Thr615Pro | |
| XM_005255867.1:c.1843A>C | XP_005255924.1:p.Thr615Pro | |
| XM_005255868.1:c.1855A>C | XP_005255925.1:p.Thr619Pro | |
| XM_005255871.2:c.88A>C | XP_005255928.1:p.Thr30Pro | |
| XM_011522968.1:c.1843A>C | XP_011521270.1:p.Thr615Pro | |
| XM_011522969.1:c.1855A>C | XP_011521271.1:p.Thr619Pro | |
| XM_011522970.1:c.1855A>C | XP_011521272.1:p.Thr619Pro | |
| XM_011522971.1:c.1855A>C | XP_011521273.1:p.Thr619Pro | |
| XM_011522972.1:c.1855A>C | XP_011521274.1:p.Thr619Pro | |
| XM_011522973.1:c.1855A>C | XP_011521275.1:p.Thr619Pro | |
| XM_011522974.1:c.88A>C | XP_011521276.1:p.Thr30Pro | |
| XR_933260.1:n.1887A>C | ||
| NM_001127897.3:c.1843A>C | NP_001121369.1:p.Thr615Pro | |
| NM_001308334.2:c.1843A>C | NP_001295263.1:p.Thr615Pro | |
| NM_001330538.1:c.1843A>C | NP_001317467.1:p.Thr615Pro | |
| NM_015272.4:c.1843A>C | NP_056087.2:p.Thr615Pro | |
| XM_005255868.2:c.1855A>C | XP_005255925.1:p.Thr619Pro | |
| XM_011522970.2:c.1855A>C | XP_011521272.1:p.Thr619Pro | |
| XM_011522971.3:c.1855A>C | XP_011521273.1:p.Thr619Pro | |
| XM_011522973.3:c.1855A>C | XP_011521275.1:p.Thr619Pro | |
| XM_017023094.2:c.1855A>C | XP_016878583.1:p.Thr619Pro | |
| XM_017023095.2:c.1855A>C | XP_016878584.1:p.Thr619Pro | |
| XM_017023096.2:c.1855A>C | XP_016878585.1:p.Thr619Pro | |
| XM_017023097.2:c.1855A>C | XP_016878586.1:p.Thr619Pro | |
| XM_017023098.1:c.88A>C | XP_016878587.1:p.Thr30Pro | |
| XM_017023099.1:c.88A>C | XP_016878588.1:p.Thr30Pro | |
| XR_933260.3:n.1898A>C | ||
| NM_015272.5:c.1843A>C MANE Select | NP_056087.2:p.Thr615Pro | |
| NM_001127897.4:c.1843A>C | NP_001121369.1:p.Thr615Pro | |
| NM_001330538.2:c.1843A>C | NP_001317467.1:p.Thr615Pro | |
| NM_001308334.3:c.1843A>C | NP_001295263.1:p.Thr615Pro |