Linked Data
dbSNP Id:
rs764133867
ExAC:
20:25288652 A / G
gnomAD v2:
20-25288652-A-G
gnomAD v4:
20-25308016-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25308016A>G , CM000682.2:g.25308016A>G | GRCh38 |
| NC_000020.10:g.25288652A>G , CM000682.1:g.25288652A>G | GRCh37 |
| NC_000020.9:g.25236652A>G | NCBI36 |
| NG_028119.1:g.87967T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339157.10:c.817T>C MANE Select | ENSP00000341408.5:p.Ser273Pro | |
| ENST00000376542.8:c.817T>C | ENSP00000365725.3:p.Ser273Pro | |
| ENST00000465694.2:c.271T>C | ENSP00000459278.2:p.Ser91Pro | |
| ENST00000671784.1:c.271T>C | ENSP00000500451.1:p.Ser91Pro | |
| ENST00000671858.1:c.271T>C | ENSP00000500550.1:p.Ser91Pro | |
| ENST00000672001.1:n.328T>C | ||
| ENST00000672114.1:c.271T>C | ENSP00000499945.1:p.Ser91Pro | |
| ENST00000672258.1:c.271T>C | ENSP00000499868.1:p.Ser91Pro | |
| ENST00000672331.1:c.271T>C | ENSP00000500286.1:p.Ser91Pro | |
| ENST00000672358.1:c.271T>C | ENSP00000500062.1:p.Ser91Pro | |
| ENST00000672406.1:c.*156T>C | ENSP00000500208.1:n.*156T>C | |
| ENST00000672566.1:c.346T>C | ENSP00000500106.1:p.Ser116Pro | |
| ENST00000672596.1:c.271T>C | ENSP00000500290.1:p.Ser91Pro | |
| ENST00000672871.1:c.271T>C | ENSP00000499949.1:p.Ser91Pro | |
| ENST00000673094.1:c.271T>C | ENSP00000500257.1:p.Ser91Pro | |
| ENST00000673121.1:c.373T>C | ENSP00000499839.1:p.Ser125Pro | |
| ENST00000673227.1:c.271T>C | ENSP00000500514.1:p.Ser91Pro | |
| ENST00000673524.1:c.379T>C | ||
| ENST00000339157.9:c.817T>C | ENSP00000341408.5:p.Ser273Pro | |
| ENST00000376542.7:c.817T>C | ENSP00000365725.3:p.Ser273Pro | |
| ENST00000481556.1:n.471T>C | ||
| ENST00000491682.5:c.346T>C | ENSP00000459495.1:p.Ser116Pro | |
| ENST00000576316.5:c.121T>C | ENSP00000459121.1:p.Ser41Pro | |
| NM_001042472.2:c.817T>C | NP_001035937.1:p.Ser273Pro | |
| NM_015600.4:c.817T>C | NP_056415.1:p.Ser273Pro | |
| XM_005260698.1:c.817T>C | XP_005260755.1:p.Ser273Pro | |
| XM_005260699.3:c.817T>C | XP_005260756.1:p.Ser273Pro | |
| XM_005260700.1:c.346T>C | XP_005260757.1:p.Ser116Pro | |
| XM_011529214.1:c.817T>C | XP_011527516.1:p.Ser273Pro | |
| XM_011529215.1:c.346T>C | XP_011527517.1:p.Ser116Pro | |
| XM_011529216.1:c.346T>C | XP_011527518.1:p.Ser116Pro | |
| XM_011529217.1:c.160T>C | XP_011527519.1:p.Ser54Pro | |
| XM_011529218.1:c.160T>C | XP_011527520.1:p.Ser54Pro | |
| XM_011529214.2:c.817T>C | XP_011527516.1:p.Ser273Pro | |
| XM_017027796.1:c.346T>C | XP_016883285.1:p.Ser116Pro | |
| XR_002958465.1:n.827T>C | ||
| XR_002958466.1:n.947T>C | ||
| XR_002958467.1:n.506T>C | ||
| NM_001042472.3:c.817T>C MANE Select | NP_001035937.1:p.Ser273Pro | |
| NM_015600.5:c.817T>C | NP_056415.1:p.Ser273Pro |