Linked Data
ClinVar Variation Id:
302456
dbSNP Id:
rs149088081
ExAC:
11:111908155 C / T
gnomAD v2:
11-111908155-C-T
gnomAD v3:
11-112037431-C-T
gnomAD v4:
11-112037431-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112037431C>T , CM000673.2:g.112037431C>T | GRCh38 |
| NC_000011.9:g.111908155C>T , CM000673.1:g.111908155C>T | GRCh37 |
| NC_000011.8:g.111413365C>T | NCBI36 |
| NG_013342.1:g.17618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.946C>T | ENSP00000518862.1:p.Pro316Ser | |
| ENST00000280346.11:c.946C>T MANE Select | ENSP00000280346.7:p.Pro316Ser | |
| ENST00000527231.2:n.993C>T | ||
| ENST00000531306.2:c.565C>T | ENSP00000433432.2:p.Pro189Ser | |
| ENST00000679368.1:c.788-1813C>T | ENSP00000505314.1:n.788-1813C>T | |
| ENST00000679466.1:n.993C>T | ||
| ENST00000679614.1:c.343C>T | ENSP00000506007.1:p.Pro115Ser | |
| ENST00000679815.1:c.*379C>T | ENSP00000504880.1:n.*379C>T | |
| ENST00000679829.1:n.1073C>T | ||
| ENST00000679878.1:c.913C>T | ENSP00000505567.1:p.Pro305Ser | |
| ENST00000680010.1:c.*87C>T | ENSP00000505768.1:n.*87C>T | |
| ENST00000680331.1:c.667C>T | ENSP00000506707.1:p.Pro223Ser | |
| ENST00000680411.1:c.691C>T | ENSP00000505915.1:p.Pro231Ser | |
| ENST00000681316.1:c.946C>T | ENSP00000506560.1:p.Pro316Ser | |
| ENST00000681328.1:c.946C>T | ENSP00000506355.1:p.Pro316Ser | |
| ENST00000681339.1:c.946C>T | ENSP00000506167.1:p.Pro316Ser | |
| ENST00000681638.1:c.*299C>T | ENSP00000506090.1:n.*299C>T | |
| ENST00000280346.10:c.946C>T | ENSP00000280346.6:p.Pro316Ser | |
| ENST00000393051.5:c.661-1813C>T | ENSP00000376771.1:n.661-1813C>T | |
| ENST00000531306.1:c.442C>T | ENSP00000433432.1:p.Pro148Ser | |
| ENST00000533297.1:c.*621C>T | ENSP00000435374.1:n.*621C>T | |
| NM_001931.4:c.946C>T | NP_001922.2:p.Pro316Ser | |
| XM_011542647.1:c.946C>T | XP_011540949.1:p.Pro316Ser | |
| XM_011542647.3:c.946C>T | XP_011540949.1:p.Pro316Ser | |
| NM_001372031.1:c.946C>T | NP_001358960.1:p.Pro316Ser | |
| NM_001372032.1:c.946C>T | NP_001358961.1:p.Pro316Ser | |
| NM_001372033.1:c.946C>T | NP_001358962.1:p.Pro316Ser | |
| NM_001372034.1:c.913C>T | NP_001358963.1:p.Pro305Ser | |
| NM_001372035.1:c.946C>T | NP_001358964.1:p.Pro316Ser | |
| NM_001372036.1:c.820C>T | NP_001358965.1:p.Pro274Ser | |
| NM_001372037.1:c.778C>T | NP_001358966.1:p.Pro260Ser | |
| NM_001372038.1:c.667C>T | NP_001358967.1:p.Pro223Ser | |
| NM_001372039.1:c.661-1813C>T | NP_001358968.1:n.661-1813C>T | |
| NM_001372040.1:c.565C>T | NP_001358969.1:p.Pro189Ser | |
| NM_001372041.1:c.661-1813C>T | NP_001358970.1:n.661-1813C>T | |
| NM_001372042.1:c.484C>T | NP_001358971.1:p.Pro162Ser | |
| NM_001931.5:c.946C>T MANE Select | NP_001922.2:p.Pro316Ser | |
| NR_164072.1:n.853-1813C>T |