Linked Data
ClinVar Variation Id:
1639374
ClinVar RCV Id:
RCV002129000
dbSNP Id:
rs1164772384
gnomAD v2:
3-50230857-C-T
gnomAD v3:
3-50193424-C-T
gnomAD v4:
3-50193424-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50193424C>T , CM000665.2:g.50193424C>T | GRCh38 |
| NC_000003.11:g.50230857C>T , CM000665.1:g.50230857C>T | GRCh37 |
| NC_000003.10:g.50205861C>T | NCBI36 |
| NG_009831.1:g.6815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232461.8:c.291+18C>T MANE Select | ENSP00000232461.3:n.291+18C>T | |
| ENST00000232461.7:c.291+18C>T | ENSP00000232461.3:n.291+18C>T | |
| ENST00000433068.5:c.291+18C>T | ENSP00000387555.1:n.291+18C>T | |
| ENST00000440836.1:c.147+18C>T | ENSP00000403537.1:n.147+18C>T | |
| NM_000172.3:c.291+18C>T | NP_000163.2:n.291+18C>T | |
| NM_144499.2:c.291+18C>T | NP_653082.1:n.291+18C>T | |
| XM_011533595.1:c.147+18C>T | XP_011531897.1:n.147+18C>T | |
| XM_011533596.1:c.147+18C>T | XP_011531898.1:n.147+18C>T | |
| XR_940416.1:n.571+18C>T | ||
| NM_000172.4:c.291+18C>T | NP_000163.2:n.291+18C>T | |
| NM_144499.3:c.291+18C>T MANE Select | NP_653082.1:n.291+18C>T |