Linked Data
ClinVar Variation Id:
223815
ClinVar RCV Id:
RCV000209004
dbSNP Id:
rs552675967
gnomAD v2:
2-17935405-G-T
gnomAD v3:
2-17754138-G-T
gnomAD v4:
2-17754138-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.17754138G>T , CM000664.2:g.17754138G>T | GRCh38 |
| NC_000002.11:g.17935405G>T , CM000664.1:g.17935405G>T | GRCh37 |
| NC_000002.10:g.17798886G>T | NCBI36 |
| NG_051292.1:g.5452G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381254.7:c.-223G>T (GEN1) MANE Select | ENSP00000370653.2:n.-223G>T | |
| ENST00000317402.11:c.-16+171G>T (GEN1) | ENSP00000318977.7:n.-16+171G>T | |
| ENST00000402989.5:c.-5-8187C>A (SMC6) | ENSP00000384539.1:n.-5-8187C>A | |
| ENST00000428868.1:c.-5-8187C>A (SMC6) | ENSP00000415352.1:n.-5-8187C>A | |
| ENST00000614478.1:n.244G>T (GEN1) | ||
| NM_182625.3:c.-16+171G>T (GEN1) | NP_872431.3:n.-16+171G>T | |
| XM_006712005.2:c.-13+171G>T (GEN1) | XP_006712068.1:n.-13+171G>T | |
| XM_011532820.1:c.-33+171G>T (GEN1) | XP_011531122.1:n.-33+171G>T | |
| XM_011532822.1:c.-16+369G>T (GEN1) | XP_011531124.1:n.-16+369G>T | |
| NM_182625.4:c.-16+171G>T (GEN1) | NP_872431.4:n.-16+171G>T | |
| XM_006712005.3:c.-13+171G>T (GEN1) | XP_006712068.1:n.-13+171G>T | |
| XM_011532820.2:c.-33+171G>T (GEN1) | XP_011531122.1:n.-33+171G>T | |
| XM_011532822.2:c.-16+369G>T (GEN1) | XP_011531124.1:n.-16+369G>T | |
| NM_001130009.3:c.-223G>T (GEN1) MANE Select | NP_001123481.3:n.-223G>T | |
| NM_182625.5:c.-16+171G>T (GEN1) | NP_872431.5:n.-16+171G>T |