Linked Data
ClinVar Variation Id:
40552
ClinVar RCV Id:
RCV000033538
RCV000156989
RCV000254685
RCV001002769
RCV001335067
RCV001813258
RCV002504856
RCV004532492
dbSNP Id:
rs397507540
gnomAD v4:
12-112489048-C-T
COSMIC:
COSM13034
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489048C>T , CM000674.2:g.112489048C>T | GRCh38 |
| NC_000012.11:g.112926852C>T , CM000674.1:g.112926852C>T | GRCh37 |
| NC_000012.10:g.111411235C>T | NCBI36 |
| NG_007459.1:g.75317C>T , LRG_614:g.75317C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1472C>T | ENSP00000491593.2:p.Pro491Leu | |
| ENST00000685487.1:c.1472C>T | ENSP00000508503.1:p.Pro491Leu | |
| ENST00000687624.1:n.137C>T | ||
| ENST00000687906.1:c.1358C>T | ENSP00000509536.1:p.Pro453Leu | |
| ENST00000688597.1:c.1224+6843C>T | ENSP00000510628.1:n.1224+6843C>T | |
| ENST00000688701.1:n.716C>T | ||
| ENST00000690210.1:c.1472C>T | ENSP00000509272.1:p.Pro491Leu | |
| ENST00000690472.1:n.681C>T | ||
| ENST00000692624.1:c.*18C>T | ENSP00000508953.1:n.*18C>T | |
| ENST00000351677.7:c.1472C>T MANE Select | ENSP00000340944.3:p.Pro491Leu | |
| ENST00000351677.6:c.1472C>T | ENSP00000340944.2:p.Pro491Leu | |
| ENST00000635625.1:c.1484C>T | ENSP00000489597.1:p.Pro495Leu | |
| ENST00000635652.1:c.485C>T | ENSP00000489541.1:p.Pro162Leu | |
| NM_002834.3:c.1472C>T , LRG_614t1:c.1472C>T | NP_002825.3:p.Pro491Leu | |
| XM_006719526.1:c.1484C>T | XP_006719589.1:p.Pro495Leu | |
| XM_006719527.1:c.1370C>T | XP_006719590.1:p.Pro457Leu | |
| XM_011538613.1:c.1481C>T | XP_011536915.1:p.Pro494Leu | |
| NM_001330437.1:c.1484C>T | NP_001317366.1:p.Pro495Leu | |
| NM_002834.4:c.1472C>T | NP_002825.3:p.Pro491Leu | |
| XM_011538613.2:c.1481C>T | XP_011536915.1:p.Pro494Leu | |
| XM_017019722.1:c.1469C>T | XP_016875211.1:p.Pro490Leu | |
| NM_001330437.2:c.1484C>T | NP_001317366.1:p.Pro495Leu | |
| NM_001374625.1:c.1469C>T | NP_001361554.1:p.Pro490Leu | |
| NM_002834.5:c.1472C>T MANE Select | NP_002825.3:p.Pro491Leu |