Linked Data
ClinVar Variation Id:
1010441
ClinVar RCV Id:
RCV002241886
dbSNP Id:
rs373102877
ExAC:
9:137623349 C / T
gnomAD v2:
9-137623349-C-T
gnomAD v3:
9-134731503-C-T
gnomAD v4:
9-134731503-C-T
COSMIC:
COSM6114896
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134731503C>T , CM000671.2:g.134731503C>T | GRCh38 |
| NC_000009.11:g.137623349C>T , CM000671.1:g.137623349C>T | GRCh37 |
| NC_000009.10:g.136763170C>T | NCBI36 |
| NG_008030.1:g.94698C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.1172C>T | ENSP00000360885.4:p.Pro391Leu | |
| ENST00000371817.8:c.1172C>T MANE Select | ENSP00000360882.3:p.Pro391Leu | |
| ENST00000371817.7:c.1172C>T | ENSP00000360882.3:p.Pro391Leu | |
| ENST00000618395.4:c.1172C>T | ENSP00000481360.1:p.Pro391Leu | |
| NM_000093.4:c.1172C>T | NP_000084.3:p.Pro391Leu | |
| NM_001278074.1:c.1172C>T | NP_001265003.1:p.Pro391Leu | |
| XR_929712.1:n.1574C>T | ||
| XR_929713.1:n.1574C>T | ||
| XM_017014266.2:c.1172C>T | XP_016869755.1:p.Pro391Leu | |
| XR_001746183.1:n.1570C>T | ||
| NM_000093.5:c.1172C>T MANE Select | NP_000084.3:p.Pro391Leu |