Linked Data
ClinVar Variation Id:
2233
ClinVar RCV Id:
RCV000002321
RCV000115744
RCV000213077
RCV000418681
RCV000656990
RCV001080004
RCV002467489
RCV001843451
RCV003225718
dbSNP Id:
rs104893829
ExAC:
3:10183772 C / T
gnomAD v2:
3-10183772-C-T
gnomAD v3:
3-10142088-C-T
gnomAD v4:
3-10142088-C-T
COSMIC:
COSM17721
ERepo:
CA020148/MONDO:0008667/078
CIViC:
CA020148
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142088C>T , CM000665.2:g.10142088C>T | GRCh38 |
| NC_000003.11:g.10183772C>T , CM000665.1:g.10183772C>T | GRCh37 |
| NC_000003.10:g.10158772C>T | NCBI36 |
| NG_008212.3:g.5454C>T , LRG_322:g.5454C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.241C>T | ENSP00000512434.1:p.Pro81Ser | |
| ENST00000696143.1:c.241C>T | ENSP00000512435.1:p.Pro81Ser | |
| ENST00000696153.1:c.241C>T | ENSP00000512444.1:p.Pro81Ser | |
| ENST00000256474.3:c.241C>T MANE Select | ENSP00000256474.3:p.Pro81Ser | |
| ENST00000256474.2:c.241C>T | ENSP00000256474.2:p.Pro81Ser | |
| ENST00000345392.2:c.241C>T | ENSP00000344757.2:p.Pro81Ser | |
| NM_000551.3:c.241C>T , LRG_322t1:c.241C>T | NP_000542.1:p.Pro81Ser | |
| NM_198156.2:c.241C>T | NP_937799.1:p.Pro81Ser | |
| XM_011534078.1:c.241C>T | XP_011532380.1:p.Pro81Ser | |
| NM_001354723.1:c.241C>T | NP_001341652.1:p.Pro81Ser | |
| NM_000551.4:c.241C>T MANE Select | NP_000542.1:p.Pro81Ser | |
| NM_001354723.2:c.241C>T | NP_001341652.1:p.Pro81Ser | |
| NM_198156.3:c.241C>T | NP_937799.1:p.Pro81Ser |