Linked Data
ClinVar Variation Id:
341117
ClinVar RCV Id:
RCV000272266
dbSNP Id:
rs751068883
gnomAD v2:
22-30092443-G-T
gnomAD v3:
22-29696454-G-T
gnomAD v4:
22-29696454-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29696454G>T , CM000684.2:g.29696454G>T | GRCh38 |
| NC_000022.10:g.30092443G>T , CM000684.1:g.30092443G>T | GRCh37 |
| NC_000022.9:g.28422443G>T | NCBI36 |
| NG_009057.1:g.97899G>T , LRG_511:g.97899G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338641.10:c.*1652G>T MANE Select | ENSP00000344666.5:n.*1652G>T | |
| ENST00000672461.1:c.*502-807G>T | ENSP00000500919.1:n.*502-807G>T | |
| ENST00000672896.1:c.*1712G>T | ENSP00000500117.1:n.*1712G>T | |
| ENST00000338641.8:c.*1652G>T | ENSP00000344666.4:n.*1652G>T | |
| ENST00000361452.8:c.*1712G>T | ENSP00000354897.4:n.*1712G>T | |
| ENST00000413209.6:c.*1652G>T | ENSP00000409921.2:n.*1652G>T | |
| NM_000268.3:c.*1652G>T , LRG_511t1:c.*1652G>T | NP_000259.1:n.*1652G>T | |
| NM_016418.5:c.*1712G>T , LRG_511t2:c.*1712G>T | NP_057502.2:n.*1712G>T | |
| NM_181828.2:c.*1712G>T | NP_861966.1:n.*1712G>T | |
| NM_181829.2:c.*1712G>T | NP_861967.1:n.*1712G>T | |
| NM_181830.2:c.*1712G>T | NP_861968.1:n.*1712G>T | |
| NM_181832.2:c.*1727G>T | NP_861970.1:n.*1727G>T | |
| NM_181833.2:c.*1652G>T | NP_861971.1:n.*1652G>T | |
| NR_156186.1:n.3999G>T | ||
| XM_017028810.1:c.*1712G>T | XP_016884299.1:n.*1712G>T | |
| NM_000268.4:c.*1652G>T MANE Select | NP_000259.1:n.*1652G>T | |
| NM_181828.3:c.*1712G>T | NP_861966.1:n.*1712G>T | |
| NM_181829.3:c.*1712G>T | NP_861967.1:n.*1712G>T | |
| NM_181830.3:c.*1712G>T | NP_861968.1:n.*1712G>T | |
| NM_181832.3:c.*1727G>T | NP_861970.1:n.*1727G>T | |
| NR_156186.2:n.3922G>T | ||
| NM_181833.3:c.*1652G>T | NP_861971.1:n.*1652G>T |