Linked Data
ClinVar Variation Id:
1440591
ClinVar RCV Id:
RCV001967706
dbSNP Id:
rs777594884
ExAC:
11:45832837 C / T
gnomAD v2:
11-45832837-C-T
gnomAD v3:
11-45811286-C-T
gnomAD v4:
11-45811286-C-T
COSMIC:
COSM4032890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45811286C>T , CM000673.2:g.45811286C>T | GRCh38 |
| NC_000011.9:g.45832837C>T , CM000673.1:g.45832837C>T | GRCh37 |
| NC_000011.8:g.45789413C>T | NCBI36 |
| NG_009875.1:g.12215C>T , LRG_107:g.12215C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.1007C>T | ENSP00000432145.2:p.Pro336Leu | |
| ENST00000314134.4:c.1046C>T MANE Select | ENSP00000313318.3:p.Pro349Leu | |
| ENST00000314134.3:c.1046C>T | ENSP00000313318.3:p.Pro349Leu | |
| ENST00000442528.2:c.1007C>T | ENSP00000412408.2:p.Pro336Leu | |
| NM_001145265.1:c.1007C>T | NP_001138737.1:p.Pro336Leu | |
| NM_001145266.1:c.1007C>T | NP_001138738.1:p.Pro336Leu | |
| NM_018389.4:c.1046C>T , LRG_107t1:c.1046C>T | NP_060859.4:p.Pro349Leu | |
| XM_011520202.1:c.539C>T | XP_011518504.1:p.Pro180Leu | |
| XM_011520202.2:c.539C>T | XP_011518504.1:p.Pro180Leu | |
| NM_001145265.2:c.1007C>T | NP_001138737.1:p.Pro336Leu | |
| NM_018389.5:c.1046C>T MANE Select | NP_060859.4:p.Pro349Leu |