Linked Data
ClinVar Variation Id:
37069
ClinVar RCV Id:
RCV000030718
RCV000711709
RCV000765290
RCV001847624
RCV002381274
RCV003407373
RCV003993752
dbSNP Id:
rs186547381
ExAC:
16:31201719 C / T
gnomAD v2:
16-31201719-C-T
gnomAD v3:
16-31190398-C-T
gnomAD v4:
16-31190398-C-T
COSMIC:
COSM1207655
PubMed:
PMID:22863194
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31190398C>T , CM000678.2:g.31190398C>T | GRCh38 |
| NC_000016.9:g.31201719C>T , CM000678.1:g.31201719C>T | GRCh37 |
| NC_000016.8:g.31109220C>T | NCBI36 |
| NG_012889.2:g.15267C>T , LRG_655:g.15267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.1292C>T MANE Select | ENSP00000254108.8:p.Pro431Leu | |
| ENST00000254108.11:c.1292C>T | ENSP00000254108.7:p.Pro431Leu | |
| ENST00000380244.7:c.1289C>T | ENSP00000369594.3:p.Pro430Leu | |
| ENST00000474990.5:n.586C>T | ||
| ENST00000483853.1:n.26C>T | ||
| ENST00000487509.6:n.4467C>T | ||
| ENST00000566605.5:c.*465C>T | ENSP00000455073.1:n.*465C>T | |
| ENST00000568685.1:c.1295C>T | ENSP00000455282.1:p.Pro432Leu | |
| ENST00000569760.5:n.183C>T | ||
| NM_001170634.1:c.1289C>T | NP_001164105.1:p.Pro430Leu | |
| NM_001170937.1:c.1280C>T | NP_001164408.1:p.Pro427Leu | |
| NM_004960.3:c.1292C>T , LRG_655t1:c.1292C>T | NP_004951.1:p.Pro431Leu | |
| NR_028388.2:n.1362C>T | ||
| XM_005255233.3:c.677C>T | XP_005255290.1:p.Pro226Leu | |
| XM_011545781.1:c.1286C>T | XP_011544083.1:p.Pro429Leu | |
| XM_011545782.1:c.677C>T | XP_011544084.1:p.Pro226Leu | |
| XM_005255233.5:c.677C>T | XP_005255290.1:p.Pro226Leu | |
| XM_011545782.2:c.677C>T | XP_011544084.1:p.Pro226Leu | |
| XM_024450221.1:c.1283C>T | XP_024305989.1:p.Pro428Leu | |
| NM_004960.4:c.1292C>T MANE Select | NP_004951.1:p.Pro431Leu |