Linked Data
ClinVar Variation Id:
368107
ClinVar RCV Id:
RCV000262386
dbSNP Id:
rs34700571
gnomAD v2:
X-154064658-C-T
gnomAD v3:
X-154836383-C-T
gnomAD v4:
X-154836383-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154836383C>T , CM000685.2:g.154836383C>T | GRCh38 |
| NC_000023.10:g.154064658C>T , CM000685.1:g.154064658C>T | GRCh37 |
| NC_000023.9:g.153717852C>T | NCBI36 |
| NG_011403.1:g.191341G>A | |
| NG_033065.1:g.3280G>A | |
| NG_011403.2:g.191341G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.*1214G>A MANE Select | ENSP00000353393.4:n.*1214G>A | |
| ENST00000644698.1:c.*1214G>A | ENSP00000495706.1:n.*1214G>A | |
| ENST00000330287.10:c.*1214G>A | ENSP00000327895.6:n.*1214G>A | |
| ENST00000360256.8:c.*1214G>A | ENSP00000353393.4:n.*1214G>A | |
| NM_000132.3:c.*1214G>A | NP_000123.1:n.*1214G>A | |
| NM_019863.2:c.*1214G>A | NP_063916.1:n.*1214G>A | |
| XM_011531126.1:c.*1214G>A | XP_011529428.1:n.*1214G>A | |
| NM_000132.4:c.*1214G>A MANE Select | NP_000123.1:n.*1214G>A | |
| NM_019863.3:c.*1214G>A | NP_063916.1:n.*1214G>A |