Linked Data
ClinVar Variation Id:
1371712
ClinVar RCV Id:
RCV001864619
dbSNP Id:
rs756147851
ExAC:
10:73767973 C / T
gnomAD v2:
10-73767973-C-T
gnomAD v3:
10-72008215-C-T
gnomAD v4:
10-72008215-C-T
COSMIC:
COSM5360225
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72008215C>T , CM000672.2:g.72008215C>T | GRCh38 |
| NC_000010.10:g.73767973C>T , CM000672.1:g.73767973C>T | GRCh37 |
| NC_000010.9:g.73437979C>T | NCBI36 |
| NG_012635.1:g.48854C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.1184C>T MANE Select | ENSP00000362207.4:p.Pro395Leu | |
| ENST00000373115.4:c.1184C>T | ENSP00000362207.4:p.Pro395Leu | |
| NM_004273.4:c.1184C>T | NP_004264.2:p.Pro395Leu | |
| XM_006718075.2:c.1184C>T | XP_006718138.1:p.Pro395Leu | |
| XM_011540369.1:c.1184C>T | XP_011538671.1:p.Pro395Leu | |
| XM_006718075.4:c.1184C>T | XP_006718138.1:p.Pro395Leu | |
| XM_011540369.2:c.1184C>T | XP_011538671.1:p.Pro395Leu | |
| NM_004273.5:c.1184C>T MANE Select | NP_004264.2:p.Pro395Leu |