Linked Data
ClinVar Variation Id:
182977
ClinVar RCV Id:
RCV001382230
dbSNP Id:
rs730882034
COSMIC:
COSM18028
CIViC:
CA020186
PCER:
P-CER:CA020186/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142104C>T , CM000665.2:g.10142104C>T | GRCh38 |
| NC_000003.11:g.10183788C>T , CM000665.1:g.10183788C>T | GRCh37 |
| NC_000003.10:g.10158788C>T | NCBI36 |
| NG_008212.3:g.5470C>T , LRG_322:g.5470C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.257C>T | ENSP00000512434.1:p.Pro86Leu | |
| ENST00000696143.1:c.257C>T | ENSP00000512435.1:p.Pro86Leu | |
| ENST00000696153.1:c.257C>T | ENSP00000512444.1:p.Pro86Leu | |
| ENST00000256474.3:c.257C>T MANE Select | ENSP00000256474.3:p.Pro86Leu | |
| ENST00000256474.2:c.257C>T | ENSP00000256474.2:p.Pro86Leu | |
| ENST00000345392.2:c.257C>T | ENSP00000344757.2:p.Pro86Leu | |
| NM_000551.3:c.257C>T , LRG_322t1:c.257C>T | NP_000542.1:p.Pro86Leu | |
| NM_198156.2:c.257C>T | NP_937799.1:p.Pro86Leu | |
| XM_011534078.1:c.257C>T | XP_011532380.1:p.Pro86Leu | |
| NM_001354723.1:c.257C>T | NP_001341652.1:p.Pro86Leu | |
| NM_000551.4:c.257C>T MANE Select | NP_000542.1:p.Pro86Leu | |
| NM_001354723.2:c.257C>T | NP_001341652.1:p.Pro86Leu | |
| NM_198156.3:c.257C>T | NP_937799.1:p.Pro86Leu |