Linked Data
ClinVar Variation Id:
341087
ClinVar RCV Id:
RCV000364164
dbSNP Id:
rs777219109
gnomAD v2:
22-30091179-C-T
gnomAD v3:
22-29695190-C-T
gnomAD v4:
22-29695190-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29695190C>T , CM000684.2:g.29695190C>T | GRCh38 |
| NC_000022.10:g.30091179C>T , CM000684.1:g.30091179C>T | GRCh37 |
| NC_000022.9:g.28421179C>T | NCBI36 |
| NG_009057.1:g.96635C>T , LRG_511:g.96635C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338641.10:c.*388C>T MANE Select | ENSP00000344666.5:n.*388C>T | |
| ENST00000672461.1:c.*448C>T | ENSP00000500919.1:n.*448C>T | |
| ENST00000672896.1:c.*448C>T | ENSP00000500117.1:n.*448C>T | |
| ENST00000338641.8:c.*388C>T | ENSP00000344666.4:n.*388C>T | |
| ENST00000361452.8:c.*448C>T | ENSP00000354897.4:n.*448C>T | |
| ENST00000413209.6:c.*388C>T | ENSP00000409921.2:n.*388C>T | |
| NM_000268.3:c.*388C>T , LRG_511t1:c.*388C>T | NP_000259.1:n.*388C>T | |
| NM_016418.5:c.*448C>T , LRG_511t2:c.*448C>T | NP_057502.2:n.*448C>T | |
| NM_181828.2:c.*448C>T | NP_861966.1:n.*448C>T | |
| NM_181829.2:c.*448C>T | NP_861967.1:n.*448C>T | |
| NM_181830.2:c.*448C>T | NP_861968.1:n.*448C>T | |
| NM_181832.2:c.*463C>T | NP_861970.1:n.*463C>T | |
| NM_181833.2:c.*388C>T | NP_861971.1:n.*388C>T | |
| NR_156186.1:n.2735C>T | ||
| XM_017028810.1:c.*448C>T | XP_016884299.1:n.*448C>T | |
| NM_000268.4:c.*388C>T MANE Select | NP_000259.1:n.*388C>T | |
| NM_181828.3:c.*448C>T | NP_861966.1:n.*448C>T | |
| NM_181829.3:c.*448C>T | NP_861967.1:n.*448C>T | |
| NM_181830.3:c.*448C>T | NP_861968.1:n.*448C>T | |
| NM_181832.3:c.*463C>T | NP_861970.1:n.*463C>T | |
| NR_156186.2:n.2658C>T | ||
| NM_181833.3:c.*388C>T | NP_861971.1:n.*388C>T |