Linked Data
ClinVar Variation Id:
363135
ClinVar RCV Id:
RCV000313800
dbSNP Id:
rs886062951
gnomAD v2:
8-42995603-C-T
gnomAD v3:
8-43140460-C-T
gnomAD v4:
8-43140460-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43140460C>T , CM000670.2:g.43140460C>T | GRCh38 |
| NC_000008.10:g.42995603C>T , CM000670.1:g.42995603C>T | GRCh37 |
| NC_000008.9:g.43114760C>T | NCBI36 |
| NG_009552.1:g.5012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.8:c.-37C>T | ENSP00000368965.4:n.-37C>T | |
| NM_152419.2:c.-37C>T | NP_689632.2:n.-37C>T | |
| XM_005273409.1:c.-37C>T | XP_005273466.1:n.-37C>T | |
| XM_005273410.1:c.-37C>T | XP_005273467.1:n.-37C>T | |
| XM_005273411.1:c.-37C>T | XP_005273468.1:n.-37C>T | |
| XM_005273412.2:c.-37C>T | XP_005273469.1:n.-37C>T | |
| XM_005273412.4:c.-37C>T | XP_005273469.1:n.-37C>T |