Linked Data
ClinVar Variation Id:
1599550
ClinVar RCV Id:
RCV002129830
dbSNP Id:
rs111665863
ExAC:
8:99169923 C / T
gnomAD v2:
8-99169923-C-T
gnomAD v3:
8-98157695-C-T
gnomAD v4:
8-98157695-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.98157695C>T , CM000670.2:g.98157695C>T | GRCh38 |
| NC_000008.10:g.99169923C>T , CM000670.1:g.99169923C>T | GRCh37 |
| NC_000008.9:g.99239099C>T | NCBI36 |
| NG_052869.1:g.45403C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401707.7:c.2499C>T MANE Select | ENSP00000385787.2:p.Pro833= | |
| ENST00000349693.3:c.2499C>T | ENSP00000339529.3:p.Pro833= | |
| ENST00000401707.6:c.2499C>T | ENSP00000385787.2:p.Pro833= | |
| NM_001145860.1:c.2499C>T | NP_001139332.1:p.Pro833= | |
| NM_001145861.1:c.2499C>T | NP_001139333.1:p.Pro833= | |
| NM_015029.2:c.2499C>T | NP_055844.2:p.Pro833= | |
| NM_001145860.2:c.2499C>T MANE Select | NP_001139332.1:p.Pro833= | |
| NM_001145861.2:c.2499C>T | NP_001139333.1:p.Pro833= | |
| NM_015029.3:c.2499C>T | NP_055844.2:p.Pro833= |